Gene: Stk4 MGI:1929004

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

serine/threonine kinase 4

Synonyms:

Kas-2, Mst1, Ysk3, sterile 20-like kinase 1

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 Stk4 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 Stk4 (1 diseases)
Human diseases predicted to be associated with Stk4 (579 diseases)

The table below shows human diseases associated to Stk4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations		Neutropenia, Lymphopenia	OMIM:614868

The table below shows human diseases predicted to be associated to Stk4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Immunodeficiency 40	Lymphopenia	OMIM:616433
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula...	OMIM:615897
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh...	OMIM:153600
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased...	OMIM:614493
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p...	OMIM:312863
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul...	OMIM:606843
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia	OMIM:233650
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Fibromatosis, Gingival, 1	Gingival fibromatosis	OMIM:135300
Immunodeficiency 14A, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec...	OMIM:615513
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t...	OMIM:247630
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Immunodeficiency 72 With Autoinflammation	Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ...	OMIM:618982
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia	OMIM:183350
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre...	OMIM:618944
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 8	Lymphopenia	OMIM:615401
Reticular Dysgenesis	Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit...	OMIM:267500
Cerebral Sarcoma	Fibrosarcoma, Neoplasm	OMIM:117600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph...	ORPHA:277
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia	OMIM:200900
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia	OMIM:615607
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen...	OMIM:617241
Immunodeficiency 25	Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir...	OMIM:610163
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig...	OMIM:618987
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s...	OMIM:615767
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m...	ORPHA:169154
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Cernunnos-Xlf Deficiency	B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T...	ORPHA:169079
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia	OMIM:247800
Agammaglobulinemia 8, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos...	OMIM:611926
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease...	OMIM:618534
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula...	OMIM:619220
Li-Fraumeni Syndrome 2	Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma	OMIM:609265
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level	ORPHA:217390
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula...	OMIM:300400
Candidiasis, Familial, 2	Increased circulating IgE level, Hypereosinophilia	OMIM:212050
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
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Transcobalamin Deficiency	Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat...	ORPHA:859
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	OMIM:601859
Adult Idiopathic Neutropenia	Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia	ORPHA:2688
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia, Decreased circulating total IgM	OMIM:610798
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Decreased circulating antibody level, Part...	OMIM:618261
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease...	OMIM:308240
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla...	OMIM:615285
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou...	OMIM:619510
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Papular Xanthoma	Histiocytosis	ORPHA:158008
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati...	OMIM:202700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	T lymphocytopenia, Splenomegaly	OMIM:608971
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Immunodeficiency 67	Increased circulating IgE level, Transient neutropenia, Liver abscess	OMIM:607676
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Melanoma-Pancreatic Cancer Syndrome	Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin...	OMIM:606719
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De...	OMIM:619281
Immunodeficiency 76	B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly	OMIM:619164
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ...	OMIM:613493
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Ras-Associated Autoimmune Leukoproliferative Disorder	Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Autoimmune thro...	OMIM:614470
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Caspase 8 Deficiency	Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i...	OMIM:607271
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Neutropenia, Lymphopenia	OMIM:614868
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria...	OMIM:618108
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De...	OMIM:300853
Immunodeficiency 52	Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D...	OMIM:617514
Immunodeficiency 70	B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci...	OMIM:618969
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level	OMIM:616873
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613501
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S...	OMIM:102700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec...	ORPHA:70593
Rhabdoid Tumor Predisposition Syndrome 2	Neoplasm of the central nervous system, Carcinoma	OMIM:613325
Immunodeficiency 27A	Thrombocytosis, Leukocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno...	OMIM:209950
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:603909
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen...	OMIM:607594
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease...	ORPHA:331206
Immunodeficiency 13	B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD...	OMIM:615518
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Schnitzler Syndrome	Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly	ORPHA:37748
Myelolymphatic Insufficiency	Hyposegmentation of neutrophil nuclei, Leukopenia	OMIM:310350
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, B lymphocytopenia, Decreased circulating IgA level, Decreased lymphocyte prolif...	OMIM:606367
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level...	OMIM:608106
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating...	ORPHA:100024
Immunodeficiency 68	B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Increased circulating IgE level, Eosinophilia	OMIM:618523
Cyclic Neutropenia	Neutropenia, Cyclic neutropenia	OMIM:162800
Immunodeficiency 84	B lymphocytopenia, Perianal abscess, Splenomegaly	OMIM:619437
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs...	OMIM:619374
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ...	OMIM:619632
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Increased circulating IgE level, Eosinophilia	OMIM:147060
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Combined Immunodeficiency Due To Partial Rag1 Deficiency	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy...	ORPHA:231154
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ...	OMIM:242860
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem...	OMIM:618986
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut...	OMIM:617099
Immunodeficiency With Hyper-Igm, Type 1	Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul...	OMIM:308230
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt...	OMIM:600802
Lichen Sclerosus Et Atrophicus	Squamous cell carcinoma, Carcinoma	OMIM:151590
Immunodeficiency 21	Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni...	OMIM:614172
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu...	ORPHA:443811
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Increased circulating IgE level	ORPHA:2902
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Absence of CD8-positive T cells, Hepat...	ORPHA:911
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Isolated Anencephaly	Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia	ORPHA:563609
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613502
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Nut Midline Carcinoma	Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom...	ORPHA:443167
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Decreased circulating IgG level, Decreased lymphocyte proliferat...	ORPHA:169160
X-Linked Lymphoproliferative Disease	Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin...	ORPHA:2442
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag...	OMIM:614699
Igg4-Related Aortitis	Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas...	ORPHA:449400
Acquired Partial Lipodystrophy	Lymphocytosis, Decreased serum complement C3	ORPHA:79087
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Immunodeficiency 92	Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy...	OMIM:619652
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly	OMIM:618495
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Decreased circulating IgA level, Abnormal immunoglobulin l...	ORPHA:276
Wiskott-Aldrich Syndrome, Autosomal Dominant	Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas...	OMIM:600903
Neutropenia, Severe Congenital, X-Linked	Neutropenia	OMIM:300299
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ...	OMIM:619313
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia	OMIM:601495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Decreased circulating antibody level, Agammaglobulinemia	OMIM:616911
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun...	OMIM:304790
Boutonneuse Fever	Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia	ORPHA:83313
Immunodeficiency 23	Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased...	OMIM:615816
Macrocephaly/Autism Syndrome	Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly	OMIM:605309
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM	ORPHA:2643
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane...	ORPHA:444463
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	ORPHA:3261
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia	OMIM:256500
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat...	OMIM:301000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun...	ORPHA:35078
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon...	OMIM:245480
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu...	ORPHA:572
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Decreased proportion of class-switched memory B cells, Decreased serum co...	OMIM:615559
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Lymphadenopathy, Decreased circulating IgA level, Decreas...	OMIM:240500
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat...	ORPHA:2585
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig cl...	OMIM:605258
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
T-Cell Immunodeficiency With Thymic Aplasia	Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno...	OMIM:242700
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Absence of lymph node germin...	OMIM:608184
Sea-Blue Histiocyte Disease	Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Li-Fraumeni Syndrome	Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma...	OMIM:151623
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:616100
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM	OMIM:251190
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Immunodeficiency 36	Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly	OMIM:616005
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ...	OMIM:608203
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased proportion of CD4-positive T cells	OMIM:301045
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm...	OMIM:150550
Macrophage Activation Syndrome	Increased circulating interleukin 6, Neutropenia, Anemia, Splenomegaly, Abnormal serum interleuki...	ORPHA:158061
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly...	OMIM:617780
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa...	OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi...	OMIM:613101
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgA level, Intermittent thrombocytopenia, I...	OMIM:313900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp...	ORPHA:158057
Multicentric Reticulohistiocytosis	Histiocytosis	ORPHA:139436
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Bone Marrow Failure Syndrome 4	Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy...	OMIM:618213
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Abnormal serum interferon-gamma level, Hepatosplenomegaly, Panhypogammaglobulinemia, Decr...	ORPHA:79124
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level	OMIM:215250
Immunodeficiency 75	Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli...	OMIM:619126
Lymphoproliferative Syndrome 1	Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating...	OMIM:613011
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia	OMIM:616871
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Selective Igm Deficiency	Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an...	ORPHA:331235
Leishmaniasis	Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating antibody ...	ORPHA:507
Proteus-Like Syndrome	Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Aspergillosis	Increased circulating IgE level, Eosinophilia, Neutropenia	ORPHA:1163
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
3-Methylglutaconic Aciduria, Type Vii	Neutropenia	OMIM:616271
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Fanconi Anemia, Complementation Group G	Leukemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:614082
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells	OMIM:615758
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Proteasome-Associated Autoinflammatory Syndrome 2	Thrombocytopenia, Increased circulating antibody level	OMIM:618048
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli...	ORPHA:508533
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Abnormal cytokine signaling, Anemia, Splenomegaly, Abnormal T cell subset distributi...	ORPHA:158048
Transcobalamin Ii Deficiency	Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,...	OMIM:275350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi...	OMIM:619041
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Refractory Anemia	Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari...	ORPHA:98826
Reticular Dysgenesis	Decreased circulating antibody level, Anemia, Abnormality of neutrophils, Leukopenia	ORPHA:33355
Angiostrongyliasis	Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ...	ORPHA:74
Omenn Syndrome	B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,...	OMIM:603554
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Panhypogammaglobulinemia, Absent tonsils, Lymph node hypoplasia	OMIM:602450
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia...	ORPHA:75564
Pleuropulmonary Blastoma	Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma	OMIM:601200
Bone Marrow Failure Syndrome 6	Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ...	OMIM:618849
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Impaired T cell func...	OMIM:613179
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly	OMIM:607616
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Splenomegaly, Hypogonadism, Decreased testicular size, De...	OMIM:201100
Lichtenstein Syndrome	Decreased circulating IgA level, Neutropenia	OMIM:246550
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Ataxia-Telangiectasia	Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia...	OMIM:208900
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Aregenerative Anemia	Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B...	ORPHA:101096
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Acute Panmyelosis With Myelofibrosis	Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,...	ORPHA:86843
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Burkitt Lymphoma	Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells	ORPHA:543
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,...	ORPHA:86841
Anemia, Sideroblastic, 5	Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia	OMIM:619523
Immunodeficiency 42	Hypoplasia of the thymus	OMIM:616622
Hemochromatosis, Type 3	Anemia, Neutropenia, Lymphopenia	OMIM:604250
Lead Poisoning	Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Increased circulating IgE le...	ORPHA:330015
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level, Anemia, Pure red cell aplasia	OMIM:618165
Hemophagocytic Lymphohistiocytosis, Familial, 4	Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:603552
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin	ORPHA:231401
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Ataxia-Telangiectasia	Type II diabetes mellitus, Decreased circulating antibody level, Polycystic ovaries, Abnormal tes...	ORPHA:100
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De...	OMIM:614700
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Neutropenia	OMIM:600351
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis	OMIM:300635
Mucopolysaccharidosis-Plus Syndrome	Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Increased circulating...	OMIM:617303
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr...	OMIM:300291
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Obesity Due To Congenital Leptin Deficiency	Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o...	ORPHA:66628
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia	OMIM:615592
Aicardi-Goutieres Syndrome 7	Thrombocytopenia, Increased circulating antibody level, Splenomegaly	OMIM:615846
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ...	ORPHA:90362
Thymic Aplasia	Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Decreas...	ORPHA:83471
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia, Spleno...	ORPHA:37042
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Tularemia	Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta...	ORPHA:3392
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis	OMIM:617718
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating IgG level, Complement deficiency, Increas...	ORPHA:449432
Subacute Inflammatory Demyelinating Polyneuropathy	Leukocytosis, Increased circulating IgG level	ORPHA:206594
Autoinflammatory Syndrome, Familial, Behcet-Like	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto...	OMIM:159550
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Immunodeficiency 55	Neutropenia	OMIM:617827
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Obesity Due To Leptin Receptor Gene Deficiency	Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o...	ORPHA:179494
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM	OMIM:300636
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Acute leukemia, Bone marrow hypocellularity, Splenomegaly, Myeloproliferative disor...	ORPHA:3226
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement deficiency, Parap...	ORPHA:91139
Acute Monoblastic/Monocytic Leukemia	Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia	ORPHA:514
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa...	OMIM:618935
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity	OMIM:617243
Dyskeratosis Congenita, Autosomal Recessive 5	Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia	OMIM:615190
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Ebola Hemorrhagic Fever	Thrombocytopenia, Increased circulating antibody level, Lymphopenia, Leukopenia	ORPHA:319218
Paraneoplastic Pemphigus	Sarcoma, B-cell lymphoma, Thymoma	ORPHA:63455
Diamond-Blackfan Anemia 8	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume	OMIM:612563
Icf Syndrome	Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia	ORPHA:2268
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Folate Malabsorption, Hereditary	Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Immunodeficiency, Common Variable, 12, With Autoimmunity	Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia	OMIM:616576
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg...	OMIM:619375
Diamond-Blackfan Anemia 4	Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia	OMIM:612527
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Combined Immunodeficiency With Faciooculoskeletal Anomalies	B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci...	ORPHA:221139
Lymphoproliferative Syndrome 2	Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	OMIM:615122
Osteogenic Sarcoma	Osteosarcoma, Retinoblastoma	OMIM:259500
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Zika Virus Disease	Thrombocytopenia, Increased circulating IgM level	ORPHA:448237
Hermansky-Pudlak Syndrome 2	Neutropenia, Enlarged platelet dense granules, Reduced natural killer cell activity, Absent plate...	OMIM:608233
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Carcinoma	OMIM:612591
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ...	OMIM:616084
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Splenomegaly, Increased circulating antibody level, Lymphopenia, Thrombocytopenia	OMIM:617591
Tubulointerstitial Nephritis With Uveitis	Non-caseating epithelioid cell granulomatosis, Circulating immune complexes	OMIM:607665
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia	OMIM:598500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A...	OMIM:300835
Sting-Associated Vasculopathy, Infantile-Onset	Thrombocytosis, Leukopenia, Increased circulating IgA level, Anemia, Increased circulating IgG le...	OMIM:615934
Cirrhosis, Familial	Increased circulating antibody level	OMIM:118900
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Agammaglobulinemia, Neutropenia, Cutaneous anergy, Panhypogammaglobulinemia, Viral h...	OMIM:209920
Autosomal Dominant Severe Congenital Neutropenia	Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop...	ORPHA:486
Tick-Borne Encephalitis	Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I...	ORPHA:297
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia	OMIM:614162
Hereditary Orotic Aciduria	Impaired T cell function, Anemia, Splenomegaly	ORPHA:30
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytop...	ORPHA:760
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Iga Pemphigus	Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous...	ORPHA:555905
Common Variable Immunodeficiency	Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Abnormality of the liver, Au...	ORPHA:1572
Pneumocystosis	Abnormal neutrophil count, Increased circulating antibody level	ORPHA:723
Maffucci Syndrome	Neoplasm of the parathyroid gland, Ovarian neoplasm, Astrocytoma, Neoplasm of the adrenal cortex,...	ORPHA:163634
Nijmegen Breakage Syndrome	B lymphocytopenia, Dysgammaglobulinemia, Thrombocytopenia, T lymphocytopenia, Autoimmune hemolyti...	OMIM:251260
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hypereosinophilia...	OMIM:617388
Sézary Syndrome	Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:3162
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia	OMIM:616738
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Decreased circula...	ORPHA:293978
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Hepatomegaly, Impaired T cell function, Decreased specific anti-polys...	OMIM:614576
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells	ORPHA:133
Tempi Syndrome	Polycythemia, Increased hematocrit, Increased circulating IgG level	ORPHA:284227
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Hepatosplenomeg...	ORPHA:505248
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h...	OMIM:612541
Relapsing Fever	Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia	ORPHA:91547
Diamond-Blackfan Anemia 11	Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production	OMIM:614900
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Lymphopenia, Thro...	OMIM:242900
Idiopathic Aplastic Anemia	Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia	ORPHA:88
Adult-Onset Still Disease	Leukocytosis, Neutrophilia, Bone marrow hypocellularity, Splenomegaly	ORPHA:829
Acquired Ichthyosis	Sarcoma, Multiple myeloma, Lymphoma, Neoplasm	ORPHA:454
Retinal Venous Beading	Neutropenia	OMIM:180080
Proteus Syndrome	Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus,...	ORPHA:744
Ollier Disease	Hemangioma, Visceral angiomatosis, Lymphangioma, Chondrosarcoma, Neoplasm, Sarcoma, Multiple ench...	ORPHA:296
Immunodeficiency 91 And Hyperinflammation	Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:619644
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Anemia, Liver abscess	ORPHA:54251
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Griscelli Syndrome Type 2	Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly	ORPHA:79477
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Igg4-Related Kidney Disease	Decreased serum complement C4, Increased circulating IgG4 level, Increased circulating IgG level,...	ORPHA:449395
Cyclic Neutropenia	Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil...	ORPHA:2686
Hyper-Igd Syndrome	Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatosplenomegaly, In...	OMIM:260920
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen	ORPHA:79456
Good Syndrome	Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Diabetes mell...	ORPHA:169105
Systemic Mastocytosis With Associated Hematologic Neoplasm	Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo...	ORPHA:98849
Noonan Syndrome 12	Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia	OMIM:618624
Orotic Aciduria	Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo...	OMIM:258900
Gaucher Disease Type 1	Leukopenia, Anemia, Splenomegaly, Hypersplenism, Increased circulating antibody level, Pancytopen...	ORPHA:77259
Schimke Immuno-Osseous Dysplasia	Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Bone marrow hyp...	ORPHA:1830
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Increased circulating IgM level, Increased circulating IgG level	ORPHA:562639
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Anemia, Lymphopenia	ORPHA:935
Poikiloderma With Neutropenia	Neutropenia, Splenomegaly	OMIM:604173
Rift Valley Fever	Thrombocytopenia, Increased circulating IgM level, Anemia, Increased circulating IgG level	ORPHA:319251
Japanese Encephalitis	Neutrophilia, Increased circulating antibody level, Increased circulating IgM level	ORPHA:79139
Aggressive Systemic Mastocytosis	Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep...	ORPHA:98850
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Hereditary Folate Malabsorption	Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin...	ORPHA:90045
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly	OMIM:618398
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Brucellosis	Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Anemia, Increased circulating IgG level, ...	ORPHA:1304
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level	ORPHA:449563
Vici Syndrome	Gray matter heterotopia, Cutaneous anergy, Decreased circulating IgG level, Decreased proportion ...	OMIM:242840
Apc-Related Attenuated Familial Adenomatous Polyposis	Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,...	ORPHA:247806
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Decreased circulating IgG level, Neutropenia	OMIM:608809
Waldenström Macroglobulinemia	Normocytic anemia, Cryoglobulinemia, Leukemia, Monoclonal immunoglobulin M proteinemia, Splenomeg...	ORPHA:33226
Immune Deficiency Disease	Decreased circulating total IgM	OMIM:242850
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Reduced na...	ORPHA:540
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret...	ORPHA:508542
Staphylococcal Necrotizing Pneumonia	Leukocytosis, Neutrophilia, Leukopenia	ORPHA:36238
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis	ORPHA:86884
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Hepatic cysts, Lymphopenia	OMIM:617425
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Absent circulating B cells, Panhypogammaglobulinemia, Decreased response t...	OMIM:307200
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Immunodeficiency 47	Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulating total IgG, ...	OMIM:300972
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, A...	ORPHA:3243
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Microcytic anemia	ORPHA:2959
Legionnaires Disease	Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, Lymphopenia,...	ORPHA:549
Yellow Fever	Leukocytosis, Increased circulating interleukin 6, Neutrophilia, Increased circulating IgM level,...	ORPHA:99829
Syndromic Diarrhea	Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Hepatic fibrosis, Hypoplasia of the...	ORPHA:84064
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating an...	OMIM:615688
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Prolidase Deficiency	Thrombocytopenia, Increased circulating antibody level, Anemia, Splenomegaly	OMIM:170100
Bloom Syndrome	Leukemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating...	OMIM:210900
Attenuated Familial Adenomatous Polyposis	Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic...	ORPHA:220460
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity	OMIM:614520
Cartilage-Hair Hypoplasia	Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge...	OMIM:250250
Congenital Enterovirus Infection	Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia	ORPHA:292
Popov-Chang syndrome	Decreased circulating antibody level, Lymphopenia	OMIM:618428
Mevalonic Aciduria	Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Hepatosplenomegaly...	OMIM:610377
Coccidioidomycosis	Abnormality of the spleen, Abscess, Increased circulating IgG level, Increased circulating IgM le...	ORPHA:228123
Whim Syndrome	Neutropenia, Lymphadenitis, Decreased circulating antibody level, Parotitis, Lymphopenia, Abnorma...	ORPHA:51636
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Immunodeficiency 82 With Systemic Inflammation	B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea...	OMIM:619381
Imerslund-Gräsbeck Syndrome	Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce...	ORPHA:35858
Cystic Echinococcosis	Splenic cyst, Peritoneal abscess, Abscess, Increased circulating antibody level, Eosinophilia	ORPHA:400
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgA level, Thrombocytopenia, Increased circulating IgM level, Increased cir...	ORPHA:79078
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Secondary Intestinal Lymphangiectasia	Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG1...	ORPHA:90363
Dyskeratosis Congenita, Autosomal Dominant 1	Anemia, Bone marrow hypocellularity, Cirrhosis, Lymphopenia, Thrombocytopenia, Aplastic anemia	OMIM:127550
Crimean-Congo Hemorrhagic Fever	Leukocytosis, Leukopenia, Increased circulating IgG level, Splenomegaly, Neutrophilia, Increased ...	ORPHA:99827
Immunodeficiency 49	Eosinophilia, Lymphopenia	OMIM:617237
Large Congenital Melanocytic Nevus	Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Neoplasm, Sarcoma	ORPHA:626
Chediak-Higashi Syndrome	Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly...	OMIM:214500
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:617062
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Decreased circulating total IgM	OMIM:614878
Pulmonary Nodular Lymphoid Hyperplasia, Familial	Increased circulating antibody level	OMIM:178610
Letterer-Siwe Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Bloom Syndrome	Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Decreased circulating ...	ORPHA:125
Cowden Syndrome 1	Goiter, Decreased circulating antibody level, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Ova...	OMIM:158350
Gardner Syndrome	Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ...	ORPHA:79665
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia	OMIM:243150
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Infantile Myofibromatosis	Neoplasm of the skin, Neoplasm of the lung, Neoplasm of the pancreas, Fibroma, Sarcoma, Benign ne...	ORPHA:2591
Primary Biliary Cholangitis	Increased circulating IgA level, Increased circulating IgM level	ORPHA:186
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Decreased...	OMIM:612301
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:615577
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Leukemia, Decreased circulating IgA level	OMIM:208910
Progressive Osseous Heteroplasia	Sarcoma	ORPHA:2762
Mogs-Cdg	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ...	ORPHA:79330
Alg12-Cdg	B lymphocytopenia, Partial absence of specific antibody response to Haemophilus influenzae type b...	ORPHA:79324
C3 Glomerulopathy	Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3	ORPHA:329918
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
Myotonic Dystrophy 2	Decreased circulating IgG level, Decreased circulating total IgM	OMIM:602668
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Premature ovarian insufficiency	ORPHA:391307
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Gene...	OMIM:181000
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Trichinellosis	Increased circulating IgE level	ORPHA:863
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Polysplenia, Splenomegaly	ORPHA:373
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Cryoglobulinemia, Decreased serum complement C4, Normochromic anem...	ORPHA:289390
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Neutrophilia, Abscess, Splenomegaly	OMIM:612852
Alveolar Echinococcosis	Anemia, Abnormal spleen morphology, Increased circulating antibody level, Eosinophilia, Cutaneous...	ORPHA:284
Nephrotic Syndrome, Type 14	Adrenal insufficiency, Hypogonadism, Lymphopenia, Hypothyroidism, Cryptorchidism	OMIM:617575
Wiskott-Aldrich Syndrome	Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem...	ORPHA:906
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Pancytopenia, Hypersplenism, Decreased circulating IgA level, Splenomegaly	OMIM:613385
Mirage Syndrome	Adrenal insufficiency, Leukopenia, Anemia, Lymphopenia, Hypergonadotropic hypogonadism, Thrombocy...	OMIM:617053
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l...	ORPHA:227990
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Hennekam Syndrome	Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Decreased circulating antibody level, ...	ORPHA:2136
Retinoblastoma	Leukemia, Lymphoma, Osteosarcoma, Pinealoma, Retinoblastoma, Ewing sarcoma	OMIM:180200
Chédiak-Higashi Syndrome	Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Abnormal platelet functio...	ORPHA:167
Pediatric Systemic Lupus Erythematosus	Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Lymphopenia, Thrombocytopenia	ORPHA:93552
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level	ORPHA:69126
Familial Mediterranean Fever	Leukocytosis, Neutrophilia, Splenomegaly	OMIM:249100
Liposarcoma	Sarcoma	ORPHA:69078
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Primary Sclerosing Cholangitis	Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly	ORPHA:171
Poems Syndrome	Polycythemia, Thrombocytosis, Increased circulating antibody level	ORPHA:2905
Autoimmune Hepatitis	Increased circulating antibody level, Increased circulating IgG level, Splenomegaly	ORPHA:2137
Desmoplastic Small Round Cell Tumor	Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the central nervous system, Neoplasm of the p...	ORPHA:83469
Igg4-Related Pachymeningitis	Complement deficiency, Eosinophilia, Increased circulating IgG4 level	ORPHA:449427
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Cryptorchidism, Jaundice	OMIM:214110
Multiple Myeloma	Increased circulating IgA level, Decreased circulating antibody level, Anemia, Increased circulat...	ORPHA:29073
Insulin-Resistance Syndrome Type B	Leukopenia, Increased circulating IgA level, Decreased serum complement factor B, Increased circu...	ORPHA:2298
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome

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