Gene: Lmbr1l MGI:1289247

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

limb region 1 like

Synonyms:

1110013E13Rik, D15Ertd735e

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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 Lmbr1l 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 Lmbr1l (0 diseases)
Human diseases predicted to be associated with Lmbr1l (581 diseases)

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

The table below shows human diseases predicted to be associated to Lmbr1l by phenotypic similarity.

Disease	Matching phenotypes	Source
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ...	OMIM:615897
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly...	OMIM:619924
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ...	OMIM:618987
Immunodeficiency 18	Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM...	OMIM:153600
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c...	OMIM:618261
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R...	OMIM:614493
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati...	OMIM:616636
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga...	OMIM:613500
Immunodeficiency 48	Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre...	ORPHA:859
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i...	OMIM:301082
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Immunodeficiency 20	Reduced natural killer cell activity, Reduced natural killer cell count	OMIM:615707
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte...	OMIM:607271
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre...	OMIM:300400
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Adult Idiopathic Neutropenia	Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia	ORPHA:2688
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par...	OMIM:618108
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci...	OMIM:618969
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619510
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia	OMIM:608898
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
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
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ...	ORPHA:169079
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C...	OMIM:617241
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c...	OMIM:618986
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni...	OMIM:619802
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism	OMIM:183350
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Immunodeficiency 25	Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia...	OMIM:610163
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin...	OMIM:618982
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169154
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619752
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619846
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Lymphopenia, B lymphocytopenia, Abnormality of humoral immunity, T lymph...	ORPHA:277
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy...	OMIM:267500
Immunodeficiency 8	Lymphopenia	OMIM:615401
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res...	ORPHA:331206
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613501
Immunodeficiency 40	Lymphopenia	OMIM:616433
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport...	OMIM:243700
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr...	OMIM:613101
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu...	OMIM:615285
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla...	OMIM:308240
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
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
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly...	OMIM:616005
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb...	OMIM:614470
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev...	OMIM:619774
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia	OMIM:601457
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 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	OMIM:251190
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc...	OMIM:616050
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev...	OMIM:242860
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt...	OMIM:619313
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Increased prop...	OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ...	ORPHA:35078
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,...	OMIM:300853
Immunodeficiency 19	Lymphopenia	OMIM:615617
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr...	OMIM:616100
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr...	ORPHA:70593
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:603909
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:608106
Immunodeficiency 17	T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro...	OMIM:615607
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P...	ORPHA:2442
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Abnormal circu...	ORPHA:158057
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop...	ORPHA:443811
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Papular Xanthoma	Histiocytosis	ORPHA:158008
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly	OMIM:619164
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:275350
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis	OMIM:607624
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
Immunodeficiency 104	T lymphocytopenia, Splenomegaly	OMIM:608971
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased proportion of CD4-positive T cells	OMIM:301045
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Lymphopenia, Splenomegaly	OMIM:605309
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Bone Marrow Failure Syndrome 4	Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt...	OMIM:618116
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia	OMIM:616871
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Mu-Heavy Chain Disease	Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly	ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level...	OMIM:308230
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Boutonneuse Fever	Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level	ORPHA:83313
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody...	OMIM:619767
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
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
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,...	OMIM:618048
Bone Marrow Failure Syndrome 5	Anemia, Decreased circulating antibody level, Pure red cell aplasia	OMIM:618165
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	ORPHA:90362
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Reticular Dysgenesis	Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Leukopenia	ORPHA:33355
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169160
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Eosinophilia, Hepatospl...	ORPHA:911
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i...	ORPHA:572
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ...	OMIM:602450
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:600903
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly	OMIM:618495
Agammaglobulinemia, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:300755
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Reduced nat...	OMIM:608233
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos...	OMIM:242700
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Immunodeficiency 67	Increased circulating IgE level, Liver abscess, Transient neutropenia	OMIM:607676
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased...	OMIM:613011
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:614700
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:301000
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia	ORPHA:158014
Lymphoproliferative Syndrome, X-Linked, 2	Hemophagocytosis, Splenomegaly, Aplastic anemia, Decreased circulating antibody level, Pancytopenia	OMIM:300635
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul...	OMIM:619632
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eosinophilia, Increased circulating IgE level	OMIM:618523
Immunodeficiency 68	Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:612260
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm...	ORPHA:3261
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri...	OMIM:245480
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:540
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope...	OMIM:301078
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Acute Erythroid Leukemia	Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Peeling Skin Syndrome 1	Eosinophilia, Increased circulating IgE level	OMIM:270300
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eosinophilia, Cutaneous abscess, Increased circulating IgE level	OMIM:147060
Immunodeficiency 23	Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemia, Increased ...	OMIM:615816
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Immunodeficiency 51	Cutaneous abscess, Abnormal lymphocyte physiology, Abnormal lymphocyte morphology	OMIM:613953
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato...	OMIM:615122
Leishmaniasis	Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P...	ORPHA:507
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Neutropenia	OMIM:600351
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell...	ORPHA:331235
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Panhypogammaglobulinemia, Abnormal circulati...	ORPHA:79124
Alpha-Heavy Chain Disease	Anemia, Dysgammaglobulinemia, Splenomegaly	ORPHA:100025
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess...	OMIM:601495
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos...	ORPHA:275
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Icf Syndrome	Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia	ORPHA:2268
Zika Virus Disease	Thrombocytopenia, Increased circulating IgM level	ORPHA:448237
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Angiostrongyliasis	Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ...	ORPHA:74
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Ataxia-Telangiectasia	Decreased circulating antibody level, Lymphopenia	ORPHA:100
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis	ORPHA:2902
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant...	OMIM:613496
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Igg4-Related Aortitis	Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy...	ORPHA:449400
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Lymphocytosis, Iron deficiency anemia, Thrombo...	OMIM:301074
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an...	ORPHA:444463
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 47	Splenomegaly, Decreased circulating total IgA, Leukopenia, Accessory spleen, Normocytic anemia, D...	OMIM:300972
Dyskeratosis Congenita, Digenic	Decreased circulating IgA level, Anemia, Decreased circulating IgG level, Decreased circulating t...	OMIM:620040
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,...	OMIM:304790
Immunodeficiency 55	Neutropenia, Lymphopenia, Absent natural killer cells	OMIM:617827
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o...	OMIM:240500
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia	OMIM:256500
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Macrophage Activation Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:158061
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level	OMIM:615592
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:605258
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, Decreased circulating IgG...	ORPHA:508533
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Immunodeficiency 61	Agammaglobulinemia	OMIM:300310
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Leukopenia, Increased circulating IgM level, Neutropenia, Bone marrow hypocellulari...	OMIM:617303
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti...	OMIM:300291
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,...	OMIM:619381
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia...	OMIM:619041
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Reduced natural killer cell activ...	OMIM:603553
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:612301
Systemic Lupus Erythematosus 17	Lymphopenia, Decreased serum complement C3, Leukopenia, Decreased serum complement C4, Autoimmune...	OMIM:301080
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level	OMIM:614069
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immune Deficiency Disease	Decreased circulating total IgM	OMIM:242850
Maternal Uniparental Disomy Of Chromosome 1	Panhypogammaglobulinemia, Pancytopenia	ORPHA:251009
Simple Cryoglobulinemia	Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Chro...	ORPHA:91139
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Griscelli Syndrome	Splenomegaly, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Bone ...	ORPHA:381
Secondary Intestinal Lymphangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Decreased circulat...	ORPHA:90363
Hereditary Folate Malabsorption	Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy...	ORPHA:90045
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Abnormal cytoki...	ORPHA:158048
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy...	ORPHA:86841
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level...	OMIM:618213
Aregenerative Anemia	Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E...	ORPHA:101096
Bloom Syndrome	Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati...	ORPHA:125
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Severe B lymphocyt...	OMIM:620005
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Lymphopenia	OMIM:617425
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop...	OMIM:615952
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor...	OMIM:243150
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:615577
Multicentric Reticulohistiocytosis	Histiocytosis	ORPHA:139436
Tularemia	Increased circulating antibody level, Leukocytosis, Anemia, Brain abscess, Cutaneous abscess, Thr...	ORPHA:3392
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro...	OMIM:613179
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Mogs-Cdg	Decreased circulating IgA level, Decreased circulating IgG level, Hepatosplenomegaly, Decreased c...	ORPHA:79330
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia	ORPHA:157991
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula...	OMIM:616084
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Anemia, Lymphopenia	ORPHA:935
Roifman Syndrome	Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly	ORPHA:353298
Ataxia-Telangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoplasia of the ...	OMIM:208900
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Ebola Hemorrhagic Fever	Increased circulating antibody level, Leukopenia, Thrombocytopenia, Lymphopenia	ORPHA:319218
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Decreased circulating IgG level, Neutropenia	OMIM:608809
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Popov-Chang syndrome	Decreased circulating antibody level, Lymphopenia	OMIM:618428
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Tick-Borne Encephalitis	Leukocytosis, Leukopenia, Increased circulating IgG level, Abnormality of serum cytokine level, I...	ORPHA:297
Autosomal Dominant Severe Congenital Neutropenia	Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni...	ORPHA:486
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:66628
Cirrhosis, Familial	Increased circulating antibody level	OMIM:118900
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Sézary Syndrome	Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly	ORPHA:3162
Pyoderma Gangrenosum	Increased circulating antibody level, Myeloid leukemia	ORPHA:48104
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells	OMIM:615758
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Good Syndrome	Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Decreased circulating antibody level	ORPHA:169105
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	OMIM:603552
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h...	ORPHA:3226
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:179494
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Lymphedema, Primary, With Myelodysplasia	Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia	OMIM:614038
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Lymphopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:617591
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Leukopenia, Thrombocytopenia	OMIM:614171
Autosomal Agammaglobulinemia	Agammaglobulinemia, Neutropenia	ORPHA:33110
Common Variable Immunodeficiency	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Decreased circulating a...	ORPHA:1572
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Schimke Immunoosseous Dysplasia	Lymphopenia, Thrombocytopenia, Pancytopenia, Decreased circulating antibody level, Abnormal immun...	OMIM:242900
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Leukopenia, Hepatosplenomegaly, Increased circulating IgM level,...	ORPHA:505248
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Aspergillosis	Eosinophilia, Increased circulating IgE level, Neutropenia	ORPHA:1163
Rift Valley Fever	Increased circulating IgM level, Anemia, Thrombocytopenia, Increased circulating IgG level	ORPHA:319251
Tempi Syndrome	Polycythemia, Increased circulating IgG level, Increased hematocrit	ORPHA:284227
Thymic Aplasia	Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,...	ORPHA:83471
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen	ORPHA:543
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Increased circulating IgA level, Leukopenia, Increased circulating IgG level, Thromb...	OMIM:615934
Bloom Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea...	OMIM:210900
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
X-Linked Agammaglobulinemia	Neutropenia, Agammaglobulinemia, Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation	ORPHA:47
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level	OMIM:619750
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Thrombocytopenia 1	Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int...	OMIM:313900
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Lymphopenia, Neutropenia	OMIM:616395
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia...	OMIM:617388
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Amed Syndrome, Digenic	Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid leukemia	OMIM:619151
Nijmegen Breakage Syndrome	B lymphocytopenia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, Thromboc...	OMIM:251260
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Immunodeficiency 31C	Autoimmune hemolytic anemia, Lymphopenia	OMIM:614162
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphol...	ORPHA:330015
Isovaleric Acidemia	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pancytopenia	OMIM:243500
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia, Increased circulating IgE level	ORPHA:2314
Thymoma	Abnormal lymphocyte physiology, Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell a...	ORPHA:99867
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia	OMIM:616744
Holoprosencephaly, Recurrent Infections, And Monocytosis	Monocytosis	OMIM:610680
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:231095
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Brucellosis	Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Thrombocytosis, Increase...	ORPHA:1304
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Absent circulating B cells, Panhypogammaglobulinemia	OMIM:307200
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal...	ORPHA:183675
Iga Pemphigus	Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Gaucher Disease Type 1	Increased circulating antibody level, Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto...	ORPHA:77259
Whim Syndrome	Decreased circulating antibody level, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia	ORPHA:51636
Vici Syndrome	Decreased circulating IgG level, Decreased T cell activation, Decreased proportion of CD4-positiv...	OMIM:242840
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Waldenström Macroglobulinemia	Splenomegaly, Cryoglobulinemia, Normocytic anemia, Abnormality of neutrophils, Monoclonal immunog...	ORPHA:33226
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Japanese Encephalitis	Increased circulating antibody level, Neutrophilia, Increased circulating IgM level	ORPHA:79139
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia	OMIM:619644
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Decreased circulating antibody level, Autoimmune thrombocytopenia, Abno...	ORPHA:293978
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Thrombocytosis, Decreased circulating antibody level, Iron deficiency anemia	OMIM:226300
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Complement deficiency, Eosinophilia, Increased circulating ...	ORPHA:449432
Prolidase Deficiency	Increased circulating antibody level, Anemia, Thrombocytopenia, Splenomegaly	OMIM:170100
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:617062
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia	OMIM:614900
Tubulointerstitial Nephritis With Uveitis	Non-caseating epithelioid cell granulomatosis, Circulating immune complexes	OMIM:607665
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po...	OMIM:258900
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Cowden Syndrome 1	Decreased circulating antibody level, Lymphopenia	OMIM:158350
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia	ORPHA:83617
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu...	OMIM:618935
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Autoimmune thrombocytopenia, ...	ORPHA:37042
Autoimmune Polyendocrinopathy Type 4	Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid cell granul...	ORPHA:227990
Hyper-Igd Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In...	OMIM:260920
Adult-Onset Still Disease	Bone marrow hypocellularity, Neutrophilia, Leukocytosis, Splenomegaly	ORPHA:829
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Thrombocytopenia, Increased circulating IgA level, Increased ci...	ORPHA:79078
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Mannosidosis, Alpha B, Lysosomal	Decreased circulating antibody level, Vacuolated lymphocytes, Splenomegaly	OMIM:248500
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat...	ORPHA:99829
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor...	ORPHA:98849
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I...	ORPHA:98850
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Decrease...	OMIM:615688
Mgat2-Cdg	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Impai...	ORPHA:79329
Coccidioidomycosis	Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level, Increased circ...	ORPHA:228123
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Impaired T cell function, Abnormal lymphocyte physiology, Abnormal proportion of nai...	ORPHA:1830
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Relapsing Fever	Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia	ORPHA:91547
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Decreased circulating IgA level, Leukemia	OMIM:208910
Autoimmune Polyendocrinopathy Type 3	Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid cell granul...	ORPHA:227982
Crimean-Congo Hemorrhagic Fever	Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Increased ...	ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Impaired T cell function, Pa...	OMIM:614576
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ...	ORPHA:3132
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr...	ORPHA:508542
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology...	ORPHA:760
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Hereditary Orotic Aciduria	Anemia, Impaired T cell function, Splenomegaly	ORPHA:30
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula...	ORPHA:29073
Cystic Echinococcosis	Increased circulating antibody level, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst	ORPHA:400
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Brain abscess, Neutrophilia	ORPHA:54251
Immunodeficiency 49	Eosinophilia, Lymphopenia	OMIM:617237
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Decreased circulating IgG level, Leukocytosis, Anisocytosis, H...	OMIM:618278
Primary Biliary Cholangitis	Increased circulating IgA level, Increased circulating IgM level	ORPHA:186
Mevalonic Aciduria	Leukocytosis, Fluctuating splenomegaly, Normocytic hypoplastic anemia, Hepatosplenomegaly, Increa...	OMIM:610377
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Diamond-Blackfan Anemia 5	Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	ORPHA:420741
C3 Glomerulopathy	Decreased serum complement C3, Decreased serum complement C4, Paraproteinemia	ORPHA:329918
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,...	OMIM:612541
Retinal Venous Beading	Neutropenia	OMIM:180080
Chediak-Higashi Syndrome	Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric...	OMIM:214500
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Dyskeratosis Congenita, Autosomal Dominant 1	Lymphopenia, Aplastic anemia, Bone marrow hypocellularity, Anemia, Thrombocytopenia	OMIM:127550
Spondyloenchondrodysplasia With Immune Dysregulation	Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia	OMIM:607944
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Bone marrow hypocellularity, Thrombocytop...	OMIM:613989
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancytopenia	OMIM:613385
Staphylococcal Necrotizing Pneumonia	Leukopenia, Neutrophilia, Leukocytosis	ORPHA:36238
Immunodeficiency 58	Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu...	OMIM:618131
Sweet Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:3243
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating IgA level, Decreased circulating total IgM	ORPHA:369837
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Immunodeficiency 43	Decreased circulating IgG level	OMIM:241600
Primary Sjögren Syndrome	Increased circulating antibody level, Lymphopenia, Decreased serum complement C3, Complement defi...	ORPHA:289390
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Cystic Fibrosis	Decreased circulating antibody level	ORPHA:586
Autoimmune Hepatitis	Increased circulating antibody level, Increased circulating IgG level, Splenomegaly	ORPHA:2137
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level	ORPHA:69126
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Panhypogammaglobulinemia, Increased mean pla...	ORPHA:84064
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia	ORPHA:391307
Gaucher Disease Type 3	Increased circulating antibody level, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:77261
Trichothiodystrophy 5, Nonphotosensitive	Decreased circulating antibody level	OMIM:300953
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Primary Sclerosing Cholangitis	Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly	ORPHA:171
Thymic Tumor	Dysgammaglobulinemia	ORPHA:100100
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Abnormal spleen morphology, Eosinophilia...	ORPHA:284
Poems Syndrome	Polycythemia, Thrombocytosis, Increased circulating antibody level	ORPHA:2905
Igg4-Related Kidney Disease	Increased circulating IgG1 level, Decreased serum complement C3, Complement deficiency, Eosinophi...	ORPHA:449395
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Decreased serum complement C3, Leukopenia, Decreased serum complement C4, Microangio...	ORPHA:93552
Hennekam Syndrome	Decreased circulating antibody level, Lymphopenia, Splenomegaly	ORPHA:2136
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Complement deficiency, Eosinophilia	ORPHA:449427
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level	OMIM:606056
Igg4-Related Ophthalmic Disease	Increased circulating IgG4 level, Eosinophilia, Increased circulating IgE level	ORPHA:449563
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Leukocyte Adhesion Deficiency Type Ii	Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Microcytic anemia, Anemia	ORPHA:99843
Celiac Disease, Susceptibility To, 1	Thrombocytosis, Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia	OMIM:212750
Q Fever	Increased circulating antibody level, Splenomegaly, Cryoglobulinemia, Hepatosplenomegaly, Granulo...	ORPHA:781
Legionnaires Disease	Bone marrow hypocellularity, Lymphopenia, Splenomegaly	ORPHA:549
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Insulin-Resistance Syndrome Type B	Decreased serum complement factor B, Increased circulating IgA level, Leukopenia, Increased circu...	ORPHA:2298
Nephrotic Syndrome, Type 14	Lymphopenia	OMIM:617575
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal...	ORPHA:167
Al Amyloidosis	Increased circulating antibody level, Anemia, Howell-Jolly bodies	ORPHA:85443
Immunodeficiency 56	Panhypogammaglobulinemia

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