Gene Summary

Name:
CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)
Synonyms:
Ii,  CLIP

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Cd74em1(IMPC)H HOM   Early adult 4.72×10-16
increased monocyte cell number Cd74em1(IMPC)H HOM   Early adult 1.85×10-13
decreased lymphocyte cell number Cd74em1(IMPC)H HOM   Early adult 2.19×10-25
decreased leukocyte cell number Cd74em1(IMPC)H HOM   Early adult 2.55×10-06

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunodeficiency 8
Lymphopenia OMIM:615401
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia OMIM:616871
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre... OMIM:300400
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... ORPHA:90283
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:601859
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni... OMIM:619802
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, B lymphocy... ORPHA:277
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity OMIM:613652
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... OMIM:618261
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619752
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 48
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... OMIM:617006
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr... OMIM:616100
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... ORPHA:411593
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:275350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Increased prop... OMIM:615559
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Increased circulatin... OMIM:603909
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Mulibrey Nanism
Cachexia ORPHA:2576
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Chilblain Lupus
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, A... ORPHA:90280
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... ORPHA:2442
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly OMIM:608971
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... OMIM:308240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia OMIM:601457
Moynahan Syndrome
Cachexia ORPHA:2574
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thymus, Absent specifi... OMIM:102700
Mu-Heavy Chain Disease
Anemia, Lymphadenopathy, Abnormal B cell count, Splenomegaly ORPHA:100024
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly... OMIM:616005
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... ORPHA:90362
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:572
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 61
Agammaglobulinemia OMIM:300310
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... OMIM:612541
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr... OMIM:613101
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, T lymphocytopenia, Panhy... OMIM:600802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Eosinophilopenia
Autoimmunity OMIM:131430
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:600903
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Pulmonary Blastoma
Weight loss ORPHA:64741
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rheumatoid factor positive, Increa... OMIM:209950
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619375
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:301000
Mcdonough Syndrome
Cachexia ORPHA:2471
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopathy OMIM:603552
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Tuberculosis
Weight loss ORPHA:3389
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia OMIM:604250
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Reticular Dysgenesis
Failure to thrive, Leukopenia, Abnormality of neutrophils, Weight loss, Decreased circulating ant... ORPHA:33355
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... ORPHA:331235
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia ORPHA:158014
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... ORPHA:276
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... OMIM:613496
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... ORPHA:824
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... ORPHA:275
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulating IgG level, Autoimmunity, ... OMIM:618495
Christianson Syndrome
Cachexia ORPHA:85278
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased... OMIM:613011
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Cachexia, Autoimmune thromboc... ORPHA:37042
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Splenomegaly, Aplastic anemia, Decreased circulating antibody level, Pancytopenia OMIM:300635
Diamond-Blackfan Anemia 5
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... ORPHA:911
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Immunodeficiency 47
Splenomegaly, Decreased circulating total IgA, Leukopenia, Accessory spleen, Normocytic anemia, D... OMIM:300972
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenomegaly, Hepatos... OMIM:612840
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Wolman Disease
Cachexia, Anemia, Bone-marrow foam cells, Splenomegaly ORPHA:75233
Igg4-Related Aortitis
Increased circulating antibody level, Antinuclear antibody positivity, Increased circulating IgG4... ORPHA:449400
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Renpenning Syndrome
Cachexia ORPHA:3242
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Anemia, Decreased circulating IgG level, Decreased circulating t... OMIM:620040
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Anemia, Weight loss ORPHA:298
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... ORPHA:443811
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Majeed Syndrome
Failure to thrive, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Cachexia, Hypochrom... ORPHA:77297
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Inflammatory Pseudotumor Of The Liver
Weight loss, Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, Decreased circulating IgG... ORPHA:508533
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Immunodeficiency 17
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... OMIM:615607
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excisio... OMIM:242700
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Cronkhite-Canada Syndrome
Cachexia, Anemia, Splenomegaly ORPHA:2930
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Hepatosplenomegaly, Decreased c... ORPHA:79330
Alpha-Heavy Chain Disease
Anemia, Dysgammaglobulinemia, Splenomegaly ORPHA:100025
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Idiopathic Achalasia
Weight loss ORPHA:930
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:612301
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia OMIM:617718
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Tetrasomy 12P
Cachexia ORPHA:884
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Desmoplastic Small Round Cell Tumor
Cachexia, Anemia, Weight loss ORPHA:83469
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato... OMIM:615122
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen ORPHA:93941
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Agranulocytosis, Neutropenia... OMIM:301078
Thymoma
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem... ORPHA:99867
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Leukocytosis, Anemia, Antineutrophil antibody positivity, R... ORPHA:90060
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... ORPHA:54251
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Autoimmunity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Splenomegaly, Mastocytosis, Increased proportion of CD25+ mast cel... ORPHA:98848
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive ORPHA:371364
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Autoimm... ORPHA:48377
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess... OMIM:601495
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... ORPHA:3226
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Aredyld Syndrome
Cachexia, Splenomegaly ORPHA:1133
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Bloom Syndrome
Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati... ORPHA:125
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, W... ORPHA:507
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Pemphigus Erythematosus
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... ORPHA:79480
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Huntington Disease-Like 2
Weight loss ORPHA:98934
Tularemia
Cutaneous abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenop... ORPHA:3392
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Abscess, Hem... OMIM:618935
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Decreased circulat... ORPHA:90363
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Autoimmunity OMIM:615758
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Severe B lymphocyt... OMIM:620005
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal... ORPHA:183675
Galactose Epimerase Deficiency
Weight loss, Splenomegaly ORPHA:79238
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
X-Linked Agammaglobulinemia
Failure to thrive, Anemia, Autoimmunity, Neutropenia, Agammaglobulinemia, Weight loss, Thrombocyt... ORPHA:47
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia ORPHA:100
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Autoimmunity, Hypereosinophilia, Weight loss, Increased circulating IgE level ORPHA:2902
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea... OMIM:210900
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Pancytopenia ORPHA:251009
Thymic Aplasia
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... ORPHA:83471
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity OMIM:270150
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Eczema, Autoimmune thro... OMIM:615952
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anemia OMIM:175500
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Abnormal circulating interleukin concentration, Autoimmunity, Antinuclear a... ORPHA:85410
Boutonneuse Fever
Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level ORPHA:83313
Chronic Hiccup
Weight loss ORPHA:396
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Gamma-Heavy Chain Disease
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Thrombocytopenia, Auto... ORPHA:100026
Silver-Russell Syndrome
Obesity, Failure to thrive in infancy, Cachexia ORPHA:813
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Heme Oxygenase 1 Deficiency
Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Thrombocytosis, Lym... OMIM:614034
Isaacs Syndrome
Weight loss ORPHA:84142
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Griscelli Syndrome Type 2
Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy ORPHA:79477
Whipple Disease
Cachexia, Anemia, Splenomegaly ORPHA:3452
Griscelli Syndrome
Splenomegaly, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Bone ... ORPHA:381
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia OMIM:612783
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Pemphigus Vulgaris
Weight loss, Autoimmunity, Recurrent cutaneous abscess formation ORPHA:704
Cyclic Neutropenia
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Thrombocytopenia, Cyclic neutropeni... ORPHA:2686
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... OMIM:619381
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Icf Syndrome
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia ORPHA:2268
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... ORPHA:760
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Bare Lymphocyte Syndrome, Type Ii
Colitis, Viral hepatitis, Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis, Infectious... OMIM:209920
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Rett Syndrome
Cachexia OMIM:312750
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Thrombocytopenia, Erythroid hypoplasia,... ORPHA:101096
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly OMIM:609981
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM ORPHA:420741
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Roifman Syndrome
Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly ORPHA:353298
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss, Rheumatoid factor positive, Anti-citrullinated protein antibod... OMIM:180300
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy... ORPHA:90045
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Panhypogammaglobulinemia, Abnormal circulati... ORPHA:79124
Bullous Pemphigoid
Weight loss, Autoimmunity ORPHA:703
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... OMIM:258900
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, Autoimmune... ORPHA:227990
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Felty Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Autoimmunity, Neutropenia, Bone marrow... ORPHA:47612
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level OMIM:619750
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Huntington Disease-Like 2
Weight loss OMIM:606438
Omenn Syndrome
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, Lymphadenopathy ORPHA:39041
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemia, Increased ... OMIM:615816
Lysosomal Acid Lipase Deficiency
Failure to thrive, Vacuolated lymphocytes, Cachexia, Hepatosplenomegaly, Weight loss, Anemia, Bon... ORPHA:275761
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Hashimoto thyroiditis ORPHA:109
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, Autoimmune... ORPHA:227982
Q Fever
Increased circulating antibody level, Antiphospholipid antibody positivity, Anticardiolipin IgG a... ORPHA:781
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Schimke Immunoosseous Dysplasia
Lymphopenia, Thrombocytopenia, Pancytopenia, Decreased circulating antibody level, Abnormal immun... OMIM:242900
Rhabdoid Tumor
Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Refractory Celiac Disease
Increased proportion of HLA DR+ T cells, Normocytic anemia, Autoimmune antibody positivity, Iron ... ORPHA:398063
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Pancreatitis, Impaired T cell function, Abnormal lymphocyte physiology, Abnormal pro... ORPHA:1830
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Ataxia-Telangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoplasia of the ... OMIM:208900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ne... OMIM:304790
Nijmegen Breakage Syndrome
Cachexia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia OMIM:608809
Allergic Bronchopulmonary Aspergillosis
Weight loss, Abnormal eosinophil morphology ORPHA:1164
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Splenomegaly, Microcytic anemia, Bone-marrow foam cells, Lymphadenopathy OMIM:257200
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:508542
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly OMIM:619183
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis ORPHA:36238
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Sézary Syndrome