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Gene: Cd74 MGI:96534

Gene Summary

Name:

CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)

Synonyms:

Ii, CLIP

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased neutrophil cell number	Cd74^em1(IMPC)H	HOM	Early adult	6.03×10^-21
decreased lymphocyte cell number	Cd74^em1(IMPC)H	HOM	Early adult	1.01×10^-25
increased monocyte cell number	Cd74^em1(IMPC)H	HOM	Early adult	2.30×10^-13
increased eosinophil cell number	Cd74^em1(IMPC)H	HOM	Early adult	8.46×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cd74 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Cd74 (0 diseases)
Human diseases predicted to be associated with Cd74 (824 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cd74 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 88	Eosinophilia	OMIM:619630
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona...	OMIM:618459
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Kimura Disease	Eosinophilia	ORPHA:482
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 102	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen...	OMIM:301082
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Systemic Lupus Erythematosus 16	Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib...	OMIM:614420
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci...	OMIM:619510
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec...	OMIM:607594
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Wells Syndrome	Eosinophilia	ORPHA:901
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased...	ORPHA:98813
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt...	ORPHA:331206
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va...	OMIM:618261
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Splenomegaly, Leukopenia, Decreased circulating total IgM, Lymph...	OMIM:620210
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p...	ORPHA:277
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat...	OMIM:619752
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia	OMIM:269840
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Cinca Syndrome	Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly	OMIM:607115
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci...	OMIM:616100
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity...	OMIM:617006
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci...	OMIM:620282
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Insulin Autoimmune Syndrome	Autoimmunity, Autoimmune antibody positivity, Weight loss, Systemic lupus erythematosus, Increase...	ORPHA:411593
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly	ORPHA:169160
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Immunodeficiency 22	Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion...	OMIM:615758
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease...	OMIM:300853
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re...	OMIM:615559
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep...	OMIM:602450
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Mulibrey Nanism	Cachexia	ORPHA:2576
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia	ORPHA:2070
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Autoinflammation With Episodic Fever And Lymphadenopathy	Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Immunodeficiency, Common Variable, 2	Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjun...	OMIM:240500
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Immunodeficiency 104	Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro...	ORPHA:90362
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Moynahan Syndrome	Cachexia	ORPHA:2574
Roifman Syndrome	Splenomegaly, Eosinophilia	OMIM:616651
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy	ORPHA:100024
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ...	OMIM:616005
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s...	OMIM:615767
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Eosinophilia, Cutaneous abscess	OMIM:618282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia...	OMIM:102700
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Autoimmunity, Chronic hepatitis due to cryp...	ORPHA:572
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia	ORPHA:2902
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia	OMIM:601457
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma...	OMIM:613101
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Pulmonary Blastoma	Weight loss	ORPHA:64741
Agammaglobulinemia, X-Linked	Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea...	OMIM:300755
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia	OMIM:615816
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia	OMIM:617388
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Immunodeficiency 27A	Rheumatoid factor positive, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Increase...	OMIM:209950
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas...	OMIM:619375
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas...	OMIM:618048
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Decreased circulating antibody level	OMIM:301045
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Mcdonough Syndrome	Cachexia	ORPHA:2471
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Tuberculosis	Weight loss	ORPHA:3389
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur...	ORPHA:33355
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c...	OMIM:613011
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia	ORPHA:158014
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm...	ORPHA:276
Christianson Syndrome	Cachexia	ORPHA:85278
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Failure to thrive in infancy, Autoimmunity, Cachexia, Autoimmune thr...	ORPHA:37042
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Autoimmunity, Lymphocytic interstitial pneumonia, Splenomegaly, Incr...	OMIM:618495
Activated Pi3K-Delta Syndrome	Autoimmunity, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr...	ORPHA:397596
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis	OMIM:300635
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease...	OMIM:300972
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos...	OMIM:612840
Renpenning Syndrome	Cachexia	ORPHA:3242
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Wolman Disease	Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells	ORPHA:75233
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Anemia, Weight loss	ORPHA:298
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I...	OMIM:620040
Alpha-Heavy Chain Disease	Splenomegaly, Dysgammaglobulinemia, Anemia	ORPHA:100025
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia...	OMIM:242700
Majeed Syndrome	Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic anemi...	ORPHA:77297
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat...	ORPHA:508533
Cystic Echinococcosis	Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst	ORPHA:400
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Cronkhite-Canada Syndrome	Splenomegaly, Cachexia, Anemia	ORPHA:2930
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Mogs-Cdg	Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea...	ORPHA:79330
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormal lymph no...	ORPHA:543
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Idiopathic Achalasia	Weight loss	ORPHA:930
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Schnitzler Syndrome	Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia	ORPHA:37748
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Desmoplastic Small Round Cell Tumor	Cachexia, Anemia, Weight loss	ORPHA:83469
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia	ORPHA:93941
Thymoma	Aplastic anemia, Autoimmunity, Abnormal lymphocyte proliferation, Pure red cell aplasia, Abnormal...	ORPHA:99867
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib...	ORPHA:90060
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l...	OMIM:615122
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Tetrasomy 12P	Cachexia	ORPHA:884
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce...	OMIM:301078
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased...	OMIM:612301
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat...	ORPHA:125
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n...	ORPHA:54251
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut...	OMIM:601495
Aredyld Syndrome	Splenomegaly, Cachexia	ORPHA:1133
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia	ORPHA:183
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia	ORPHA:199299
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal m...	ORPHA:98848
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ...	OMIM:242860
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema...	ORPHA:48377
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Incr...	ORPHA:507
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal ...	ORPHA:3392
Pemphigus Erythematosus	Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S...	ORPHA:79480
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu...	OMIM:613179
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess	ORPHA:284
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ...	OMIM:618935
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Galactose Epimerase Deficiency	Splenomegaly, Weight loss	ORPHA:79238
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Bloom Syndrome	Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev...	OMIM:210900
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Autoimmunity, Weight loss, Agammaglobulinemia, Anemia, Neu...	ORPHA:47
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Anemia, Decreased ci...	OMIM:620005
Ataxia-Telangiectasia	Lymphopenia, Decreased circulating antibody level	ORPHA:100
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Autoimmunity, Sinusitis, Pneumonia,...	ORPHA:83471
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specif...	ORPHA:183675
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Chronic Hiccup	Weight loss	ORPHA:396
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anemia	OMIM:175500
Boutonneuse Fever	Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Lymphad...	ORPHA:100026
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity, Weight loss	ORPHA:704
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Isaacs Syndrome	Weight loss	ORPHA:84142
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Splenomegaly, Decreased circulating total IgA, T lymphocyt...	OMIM:619381
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic ...	OMIM:614034
Sjogren Syndrome	Autoimmunity, Rheumatoid arthritis	OMIM:270150
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ...	ORPHA:381
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Infantile Krabbe Disease	Failure to thrive, Cachexia	ORPHA:206436
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Incontinentia Pigmenti	Eosinophilia	ORPHA:464
Igg4-Related Pachymeningitis	Eosinophilia	ORPHA:449427
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion...	ORPHA:540
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Whipple Disease	Splenomegaly, Cachexia, Anemia	ORPHA:3452
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Rett Syndrome	Cachexia	OMIM:312750
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Colitis, Neu...	OMIM:209920
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Absent isohemagglutinin level, Comple...	OMIM:615468
Rheumatoid Arthritis	Anti-citrullinated protein antibody positivity, Rheumatoid factor positive, Rheumatoid arthritis,...	OMIM:180300
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly,...	ORPHA:98850
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Bullous Pemphigoid	Autoimmunity, Weight loss	ORPHA:703
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Weight loss	ORPHA:90003
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p...	ORPHA:760
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Coccidioidomycosis	Abnormality of the spleen, Eosinophilia, Granuloma, Abscess	ORPHA:228123
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim...	ORPHA:227990
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Felty Syndrome	Autoimmunity, Splenomegaly, Weight loss, Anemia, Bone marrow hypocellularity, Neutropenia, Abnorm...	ORPHA:47612
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Decreased circulating antibody level, Microcytic anemia	OMIM:619750
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, Hepatosplenomegaly, Weig...	ORPHA:275761
Igg4-Related Submandibular Gland Disease	Eosinophilia	ORPHA:449432
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Bannayan-Riley-Ruvalcaba Syndrome	Hashimoto thyroiditis, Cachexia	ORPHA:109
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul...	OMIM:242900
Q Fever	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anticardiolipin IgG antibody po...	ORPHA:781
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Huntington Disease-Like 2	Weight loss	OMIM:606438
Xfe Progeroid Syndrome	Failure to thrive, Cachexia	OMIM:610965
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Rhabdoid Tumor	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim...	ORPHA:227982
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Autoimmunity, Abnormal lymphocyte physiology, Minimal change glomerulon...	ORPHA:1830
Ataxia-Telangiectasia	Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ...	OMIM:208900
Macrocephaly/Autism Syndrome	Splenomegaly, Lymphopenia, Decreased circulating antibody level	OMIM:605309
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia	ORPHA:647
Adult-Onset Still Disease	Splenomegaly, Leukocytosis, Neutrophilia, Bone marrow hypocellularity	ORPHA:829
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue histiocytosis	OMIM:257200
Macrophage Activation Syndrome	Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cel...	ORPHA:158061
Autosomal Agammaglobulinemia	Agammaglobulinemia, Neutropenia	ORPHA:33110
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Microsporidiosis	Brain abscess, Cachexia, Abnormality of the spleen, Weight loss, Decreased proportion of CD4-posi...	ORPHA:2552
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Trisomy 18	Cachexia	ORPHA:3380
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia...	ORPHA:91139
Schwartz-Jampel Syndrome	Cachexia, Decreased body weight	ORPHA:800
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Insulin-Resistance Syndrome Type B	Autoimmunity, Abnormality of body weight, Increased circulating IgA level, Antinuclear antibody p...	ORPHA:2298
Sarcoidosis	Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia	ORPHA:797
Igg4-Related Ophthalmic Disease	Eosinophilia	ORPHA:449563
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody level	ORPHA:169105
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Nodular Non-Suppurative Panniculitis	Splenomegaly, Autoimmunity, Weight loss	ORPHA:33577
Pneumocystosis	Weight loss, Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody level	OMIM:226300
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Pleural Mesothelioma	Weight loss	ORPHA:50251
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Anemia, Weight loss	ORPHA:1842
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni...	ORPHA:160
Seckel Syndrome	Cachexia	ORPHA:808
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy	ORPHA:79456
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Immunodeficiency 59 And Hypoglycemia	Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp...	OMIM:233600
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellularity, N...	OMIM:617303
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:233710
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Focal Myositis	Weight loss	ORPHA:48918
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti...	OMIM:614576
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia	ORPHA:935
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Anemia	ORPHA:79076
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Syste...	ORPHA:49041
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:233690
Camurati-Engelmann Disease	Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia	ORPHA:1328
Wilson Disease	Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:905
Perry Syndrome	Weight loss	ORPHA:178509
Igg4-Related Kidney Disease	Eosinophilia	ORPHA:449395
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Abnormal dense granules, Splenomegaly, Thrombocytopeni...	OMIM:214500
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari...	OMIM:127550
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level...	ORPHA:1572
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thro...	ORPHA:2072
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess	OMIM:612852
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Takayasu Arteritis	Anemia, Weight loss	ORPHA:3287
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:169090
Lymphoid Interstitial Pneumonia	Autoimmunity, Autoimmune antibody positivity, Weight loss, Rheumatoid arthritis, Failure to thrive	ORPHA:79128
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L...	OMIM:242840
Immunodeficiency 58	Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a...	OMIM:618131
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,...	ORPHA:79329
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci...	ORPHA:29073
Cockayne Syndrome	Splenomegaly, Cachexia	ORPHA:191
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a...	ORPHA:3243
Kaposi Sarcoma	Abnormality of the spleen, Weight loss	ORPHA:33276
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level	OMIM:248500
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Leukopenia, He...	OMIM:603553
Cushing Disease	Decreased eosinophil count, Leukocytosis, Lymphopenia	ORPHA:96253
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody leve...	OMIM:615688
Nephroblastoma	Lymphadenopathy	ORPHA:654
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocytosis, Anemia	OMIM:267700
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly, Autoimmu...	ORPHA:75565
Cowden Syndrome 1	Lymphopenia, Decreased circulating antibody level	OMIM:158350
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive, Decrea...	OMIM:212750
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Weight loss	ORPHA:79242
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Perianal abscess, Weight loss, Iron deficiency...	OMIM:301074
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Igg4-Related Dacryoadenitis And Sialadenitis	Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinuclear anti...	ORPHA:79078
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Autoimmune antibody positivity, Small for gestational age, Weight loss	ORPHA:424
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level	OMIM:613385
Thymic Carcinoma	Weight loss	ORPHA:99868
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
Osteosarcoma	Weight loss	ORPHA:668
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell...	ORPHA:3132
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Cap Polyposis	Weight loss	ORPHA:160148
Brucellosis	Liver abscess, Lung abscess, Rheumatoid factor positive, Small for gestational age, Hypersplenism...	ORPHA:1304
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Decrease...	OMIM:614162
Liposarcoma	Weight loss	ORPHA:69078
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85450
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Polymyositis	Autoimmunity, Weight loss	ORPHA:732
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellular...	ORPHA:505248
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopenia, Abnormal l...	ORPHA:50918
Whim Syndrome	Decreased circulating antibody level, Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:306400
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Glossopharyngeal Neuralgia	Autoimmunity, Weight loss	ORPHA:221098
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Tick-Borne Encephalitis	Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor...	ORPHA:297
Primary Sjögren Syndrome	Normocytic anemia, Decreased circulating antibody level, Complement deficiency, Leukopenia, Normo...	ORPHA:289390
Granulomatosis With Polyangiitis	Cytoplasmic antineutrophil antibody positivity, Granulomatosis, Perinuclear antineutrophil antibo...	OMIM:608710
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A...	ORPHA:293978
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
Polyarteritis Nodosa	Weight loss	ORPHA:767
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss	ORPHA:188
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Primary Sclerosing Cholangitis	Splenomegaly, Histiocytosis, Abnormal eosinophil morphology, Hepatosplenomegaly	ORPHA:171
Poems Syndrome	Thrombocytosis, Weight loss, Polycythemia, Increased circulating antibody level	ORPHA:2905
Gm1 Gangliosidosis	Weight loss, Splenomegaly, Failure to thrive, Hepatosplenomegaly	ORPHA:354
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc...	OMIM:251260
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Familial Gestational Hyperthyroidism	Autoimmune antibody positivity, Weight loss	ORPHA:99819
Familial Glucocorticoid Deficiency	Failure to thrive, Autoimmunity, Weight loss	ORPHA:361
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, H...	OMIM:618278
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Anemia, Weight loss	OMIM:256700
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Viss Syndrome	Hypereosinophilia	OMIM:619472
Ménétrier Disease	Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Autoimmune Pulmonary Alveolar Proteinosis	Autoimmune antibody positivity, Weight loss	ORPHA:747
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia	ORPHA:67
Rift Valley Fever	Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Anemia	ORPHA:319251
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Japanese Encephalitis	Increased circulating IgM level, Neutrophilia, Increased circulating antibody level	ORPHA:79139
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Weight loss	ORPHA:324964
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Al Amyloidosis	Weight loss, Howell-Jolly bodies, Anemia, Increased circulating antibody level	ORPHA:85443
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Yao Syndrome	Weight loss	OMIM:617321
Proteus Syndrome	Splenomegaly, Thymus hyperplasia, Cachexia	ORPHA:744
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Granuloma, Increased circulating IgM level	ORPHA:562639
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Weight loss, Hepatosplenomegaly, Failure to thrive, Anemia	OMIM:619487
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Carney Triad	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:139411
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Perry Syndrome	Weight loss	OMIM:168605
Familial Mediterranean Fever	Splenomegaly, Leukocytosis, Neutrophilia	OMIM:249100
Postinfectious Vasculitis	Rheumatoid factor positive, Increased circulating IgA level, Antinuclear antibody positivity, Cyt...	ORPHA:48435
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Weight loss	ORPHA:134
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Decreased circulating IgA level	OMIM:613327
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Weight loss, Leukopenia, Thrombocytosis, Anemia	ORPHA:20
Oromandibular Dystonia	Weight loss	ORPHA:93958
Primary Biliary Cholangitis	Increased circulating IgM level, Increased circulating IgA level	ORPHA:186
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopen...	ORPHA:84064
Lysinuric Protein Intolerance	Hepatosplenomegaly, Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of humo...	ORPHA:470
Trichothiodystrophy	Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia	ORPHA:33364
Fatal Familial Insomnia	Weight loss	OMIM:600072
Trichohepatoenteric Syndrome 1	Splenomegaly, Thrombocytosis, Increased mean platelet volume, Decreased circulating antibody level	OMIM:222470
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Weight loss	ORPHA:465508
Cartilage-Hair Hypoplasia	Decreased circulating antibody level, Anemia, Neutropenia	ORPHA:175
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Smooth muscle antibody positivity, Weight loss	ORPHA:1018
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Short Syndrome	Weight loss	ORPHA:3163
Hennekam Syndrome	Splenomegaly, Lymphopenia, Decreased circulating antibody level	ORPHA:2136
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Autoimmunity, Weight loss	ORPHA:95409
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Weight loss	ORPHA:764
Osteootohepatoenteric Syndrome	Failure to thrive, Anemia, Weight loss	OMIM:619377
Dubowitz Syndrome	Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula...	OMIM:223370
Budd-Chiari Syndrome	Splenomegaly, Weight loss	ORPHA:131
Cushing Syndrome Due To Ectopic Acth Secretion	Decreased eosinophil count, Leukocytosis, Lymphopenia	ORPHA:99889
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Decreased circulating antibody level	ORPHA:79396
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Iridocyclitis, Bronchiectasis, Uvei...	OMIM:181000
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Peripheral Primitive Neuroectodermal Tumor	Anemia, Weight loss	ORPHA:370348
Polycythemia Vera	Splenomegaly, Weight loss, Acute leukemia	ORPHA:729
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Antinuclear antibody positivity, Weight loss, Anemia, Hepatosplenomegaly	ORPHA:85408
Norrie Disease	Failure to thrive, Cachexia	ORPHA:649
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Leukocytosis,...	ORPHA:544482
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Weight loss, Anemia, Increased circulating antibody...	OMIM:615846
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Microcytic anemia, Leukocytosis, Anemia, Abnormal isohemagglutinin level	ORPHA:99843
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Addison Disease	Normocytic anemia, Autoimmunity, Thiamine-responsive megaloblastic anemia, Weight loss, Failure t...	ORPHA:85138
Juvenile Dermatomyositis	Autoimmunity, Weight loss	ORPHA:93672
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss	ORPHA:276621
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Caroli Disease	Splenomegaly, Leukocytosis, Liver abscess, Weight loss	ORPHA:53035
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Giant Cell Arteritis	Weight loss	ORPHA:397
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Autoimmune antibody positivity, Weight loss	ORPHA:99885
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Toxic Epidermal Necrolysis	Thrombocytopenia, Weight loss, Anemia, Neutropenia	ORPHA:537
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Increased circulating IgG lev...	ORPHA:99827
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss	ORPHA:36426
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased circulating antibody level, Anemia, Hepatosplenomegaly	ORPHA:247598
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Hermansky-Pudlak Syndrome	Weight loss, Neutropenia	ORPHA:79430
Lynch Syndrome	Weight loss	ORPHA:144
Familial Pancreatic Carcinoma	Weight loss, Peritoneal abscess, Hepatosplenomegaly	ORPHA:1333
Hereditary Pheochromocytoma-Paraganglioma	Weight loss	ORPHA:29072
Granulomatosis With Polyangiitis	Granulomatosis, Autoimmunity, Weight loss	ORPHA:900
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Familial Colorectal Cancer Type X	Weight loss	ORPHA:440437
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat...	ORPHA:99829
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Weight loss	ORPHA:100075
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology, Psoriasiform dermatitis	ORPHA:2237
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Erdheim-Chester Disease	Anemia, Weight loss	ORPHA:35687
Mucolipidosis Type Ii	Splenomegaly, Weight loss, Hepatosplenomegaly	ORPHA:576
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss	ORPHA:309031
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Weight loss, Leukopenia, Anemia	ORPHA:84
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Cytoplasmic antineutrophil antibody positi...	OMIM:233450
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Rat-Bite Fever	Anemia, Weight loss	ORPHA:31205
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss	ORPHA:100078
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Weight loss, Increased circulating IgG level, Normochromic anemia, Increased c...	ORPHA:91500
Tropical Pancreatitis	Weight loss	ORPHA:103918
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Glucagonoma	Normochromic anemia, Weight loss, Acanthocytosis	ORPHA:97280
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Somatostatinoma	Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
Cystinosis, Nephropathic	Splenomegaly, Failure to thrive in infancy, Weight loss	OMIM:219800
Vipoma	Normochromic anemia, Weight loss	ORPHA:97282
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Nocardiosis	Weight loss, Brain abscess, Liver abscess, Cutaneous abscess	ORPHA:31204
Reactive Arthritis	Weight loss	ORPHA:29207
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Ppoma	Weight loss	ORPHA:97278
Behçet Disease	Splenomegaly, Weight loss	ORPHA:117
Parathyroid Carcinoma	Weight loss	ORPHA:143
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Grfoma	Weight loss	ORPHA:97261
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150
Choreoacanthocytosis	Abnormal erythrocyte enzyme level, Splenomegaly, Weight loss, Acanthocytosis	ORPHA:2388
Multiple Endocrine Neoplasia Type 1	Weight loss	ORPHA:652
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Weight loss	ORPHA:90794
Chronic Graft Versus Host Disease	Pancytopenia, Weight loss	ORPHA:99921
African Trypanosomiasis	Splenomegaly, Weight loss, Hepatosplenomegaly	ORPHA:3385
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Asplenia, Decreased circulating antibody level	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Decreased circulating antibody level	ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cd74

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cd74.

No publications found that use IMPC mice or data for Cd74.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cd74^em1(IMPC)H	Exon Deletion	Mice
Cd74^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cd74^em2(IMPC)H	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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