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 (601 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		Lymphopenia, Neutropenia	OMIM:614868

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

Disease	Matching phenotypes	Source
Immunodeficiency 18	Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Immunodeficiency 40	Lymphopenia	OMIM:616433
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ...	OMIM:615897
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM...	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	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R...	OMIM:614493
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin...	OMIM:618982
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
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 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia	OMIM:269840
Immunodeficiency 8	Lymphopenia	OMIM:615401
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy...	OMIM:267500
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Cerebral Sarcoma	Neoplasm, Fibrosarcoma	OMIM:117600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Abnormality of humora...	ORPHA:277
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
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 25	Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia...	OMIM:610163
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ...	OMIM:618987
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619924
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169154
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ...	ORPHA:169079
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased...	OMIM:615767
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
Li-Fraumeni Syndrome 2	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:300400
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Enchondromatosis, Multiple, Ollier Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:166000
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Immunodeficiency 19	Lymphopenia	OMIM:615617
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre...	ORPHA:859
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Adult Idiopathic Neutropenia	Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia	ORPHA:2688
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati...	OMIM:616636
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c...	OMIM:618261
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga...	OMIM:613500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu...	OMIM:615285
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	OMIM:619752
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	OMIM:619510
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:619802
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly...	OMIM:616005
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen...	OMIM:619846
Papular Xanthoma	Histiocytosis	ORPHA:158008
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla...	OMIM:308240
Immunodeficiency 67	Increased circulating IgE level, Liver abscess, Transient neutropenia	OMIM:607676
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly	OMIM:619164
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Melanoma-Pancreatic Cancer Syndrome	Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel...	OMIM:606719
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport...	OMIM:243700
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen...	OMIM:301082
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte...	OMIM:607271
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb...	OMIM:614470
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par...	OMIM:618108
Immunodeficiency 20	Reduced natural killer cell activity, Reduced natural killer cell count	OMIM:615707
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci...	OMIM:618969
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,...	OMIM:300853
Immunodeficiency 104	T lymphocytopenia, Splenomegaly	OMIM:608971
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Rhabdoid Tumor Predisposition Syndrome 2	Neoplasm of the central nervous system, Carcinoma	OMIM:613325
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613501
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ...	OMIM:602450
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr...	ORPHA:70593
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis	OMIM:607624
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:603909
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor...	ORPHA:331206
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul...	OMIM:619632
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:608106
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:618394
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eosinophilia, Increased circulating IgE level	OMIM:618523
Immunodeficiency 17	T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro...	OMIM:615607
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Immunodeficiency 68	Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:612260
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ...	ORPHA:100024
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Cutaneous abscess, Eosinophilia, Increased circulating IgE level	OMIM:147060
Peeling Skin Syndrome 1	Eosinophilia, Increased circulating IgE level	OMIM:270300
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ...	OMIM:618986
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia	OMIM:608898
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev...	OMIM:242860
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
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, Absent specific antibody response, Ap...	OMIM:102700
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
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ...	OMIM:600802
Lichen Sclerosus Et Atrophicus	Squamous cell carcinoma, Carcinoma	OMIM:151590
Pgm3-Cdg	Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, ...	ORPHA:443811
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level...	OMIM:308230
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Eosinophilia, Hepatospl...	ORPHA:911
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis	ORPHA:2902
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169160
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos...	OMIM:242700
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P...	ORPHA:2442
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou...	ORPHA:443167
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Igg4-Related Aortitis	Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy...	ORPHA:449400
Acquired Partial Lipodystrophy	Decreased serum complement C3, Lymphocytosis	ORPHA:79087
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt...	OMIM:619313
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen...	OMIM:600903
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev...	OMIM:619774
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre...	ORPHA:276
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,...	OMIM:304790
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency 23	Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemia, Increased ...	OMIM:615816
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm...	ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir...	ORPHA:35078
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia	OMIM:256500
Boutonneuse Fever	Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level	ORPHA:83313
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly	OMIM:618495
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly	OMIM:605309
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par...	OMIM:240500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri...	OMIM:245480
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,...	OMIM:618048
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:605258
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ...	ORPHA:572
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Decreased seru...	OMIM:615559
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen...	OMIM:301000
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia,...	OMIM:301078
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,...	OMIM:608184
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer...	OMIM:151623
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
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
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level...	OMIM:618213
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased proportion of CD4-positive T cells	OMIM:301045
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody...	OMIM:619767
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc...	OMIM:616050
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr...	OMIM:613101
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr...	OMIM:616100
Agammaglobulinemia, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:300755
Macrophage Activation Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:158061
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Thrombocytopenia 1	Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int...	OMIM:313900
Multicentric Reticulohistiocytosis	Histiocytosis	ORPHA:139436
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased...	OMIM:614878
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Abnormal circu...	ORPHA:158057
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Immunodeficiency 75	Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia...	OMIM:619126
Proteus-Like Syndrome	Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, Panhypogammaglobulinemia, T lymphocytopenia, Abnormal circulating interleukin...	ORPHA:79124
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope...	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	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell...	ORPHA:331235
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Leishmaniasis	Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P...	ORPHA:507
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells	OMIM:615758
Aspergillosis	Eosinophilia, Increased circulating IgE level, Neutropenia	ORPHA:1163
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia	ORPHA:157991
Bone Marrow Failure Syndrome 4	Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt...	OMIM:618116
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:275350
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph...	ORPHA:508533
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia...	OMIM:619041
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos...	ORPHA:275
Angiostrongyliasis	Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ...	ORPHA:74
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Omenn Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l...	OMIM:603554
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Abnormal cytoki...	ORPHA:158048
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Reticular Dysgenesis	Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Leukopenia	ORPHA:33355
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Pleuropulmonary Blastoma	Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma	OMIM:601200
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphol...	ORPHA:330015
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro...	OMIM:613179
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess...	OMIM:601495
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia, Increased circulating IgE level	ORPHA:2314
Lymphedema, Primary, With Myelodysplasia	Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia	OMIM:614038
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula...	ORPHA:86843
Aregenerative Anemia	Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E...	ORPHA:101096
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Zika Virus Disease	Thrombocytopenia, Increased circulating IgM level	ORPHA:448237
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen	ORPHA:543
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy...	ORPHA:86841
Immunodeficiency 42	Hypoplasia of the thymus	OMIM:616622
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Bone Marrow Failure Syndrome 5	Anemia, Decreased circulating antibody level, Pure red cell aplasia	OMIM:618165
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	OMIM:603552
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:66628
Ataxia-Telangiectasia	Type II diabetes mellitus, Lymphopenia, Decreased circulating antibody level, Delayed puberty, Di...	ORPHA:100
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level	OMIM:615592
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Neutropenia	OMIM:600351
Lymphoproliferative Syndrome, X-Linked, 2	Hemophagocytosis, Splenomegaly, Aplastic anemia, Decreased circulating antibody level, Pancytopenia	OMIM:300635
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Leukopenia, Increased circulating IgM level, Neutropenia, Bone marrow hypocellulari...	OMIM:617303
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Complement deficiency, Eosinophilia, Increased circulating ...	ORPHA:449432
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:179494
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Autoimmune thrombocytopenia, ...	ORPHA:37042
Tularemia	Increased circulating antibody level, Leukocytosis, Anemia, Brain abscess, Cutaneous abscess, Thr...	ORPHA:3392
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:614700
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Thymic Aplasia	Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,...	ORPHA:83471
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	ORPHA:90362
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti...	OMIM:300291
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia	OMIM:616744
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h...	ORPHA:3226
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia	ORPHA:514
Simple Cryoglobulinemia	Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Chro...	ORPHA:91139
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, Lymphadenitis, Hem...	OMIM:618935
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor...	OMIM:243150
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Ebola Hemorrhagic Fever	Increased circulating antibody level, Leukopenia, Thrombocytopenia, Lymphopenia	ORPHA:319218
Paraneoplastic Pemphigus	Thymoma, B-cell lymphoma, Sarcoma	ORPHA:63455
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Ataxia-Telangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoplasia of the ...	OMIM:208900
Icf Syndrome	Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia	ORPHA:2268
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Trichothiodystrophy 3, Photosensitive	Neutropenia, Increased circulating IgA level, Lymphopenia	OMIM:616395
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Immunodeficiency 55	Neutropenia, Lymphopenia, Absent natural killer cells	OMIM:617827
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato...	OMIM:615122
Osteogenic Sarcoma	Osteosarcoma, Retinoblastoma	OMIM:259500
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Carcinoma	OMIM:612591
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula...	OMIM:616084
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Lymphopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:617591
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Reduced nat...	OMIM:608233
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Lymphocytosis, Iron deficiency anemia, Thrombo...	OMIM:301074
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea...	OMIM:619375
Tubulointerstitial Nephritis With Uveitis	Non-caseating epithelioid cell granulomatosis, Circulating immune complexes	OMIM:607665
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Cirrhosis, Familial	Increased circulating antibody level	OMIM:118900
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgA level, Lymphopenia, Leukopenia, Increased circulating IgG level, Thromb...	OMIM:615934
Hereditary Orotic Aciduria	Anemia, Impaired T cell function, Splenomegaly	ORPHA:30
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
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Biliary tract abnormality, Panhypogammaglobulinemia, Cholangitis, Neutropenia, A...	OMIM:209920
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Immunodeficiency 31C	Autoimmune hemolytic anemia, Lymphopenia	OMIM:614162
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Maffucci Syndrome	Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost...	ORPHA:163634
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Iga Pemphigus	Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
Systemic Lupus Erythematosus 17	Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:301080
Sézary Syndrome	Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly	ORPHA:3162
Common Variable Immunodeficiency	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Decreased circulating a...	ORPHA:1572
Nijmegen Breakage Syndrome	B lymphocytopenia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, Thromboc...	OMIM:251260
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Imp...	OMIM:614576
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia...	OMIM:617388
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te...	ORPHA:293978
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology...	ORPHA:760
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Tempi Syndrome	Polycythemia, Increased circulating IgG level, Increased hematocrit	ORPHA:284227
Pyoderma Gangrenosum	Increased circulating antibody level, Myeloid leukemia	ORPHA:48104
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Relapsing Fever	Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia	ORPHA:91547
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Leukopenia, Hepatosplenomegaly, Increased circulating IgM level,...	ORPHA:505248
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Acquired Ichthyosis	Neoplasm, Multiple myeloma, Sarcoma, Lymphoma	ORPHA:454
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia	OMIM:614900
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Ollier Disease	Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ...	ORPHA:296
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased serum testosterone concentration, Hepatomegaly, Splenomegaly, Impaired T cell function,...	OMIM:201100
Adult-Onset Still Disease	Bone marrow hypocellularity, Neutrophilia, Leukocytosis, Splenomegaly	ORPHA:829
Proteus Syndrome	Lymphangioma, Gray matter heterotopia, Ovarian neoplasm, Splenomegaly, Neoplasm of the thymus, Te...	ORPHA:744
Rift Valley Fever	Increased circulating IgM level, Anemia, Thrombocytopenia, Increased circulating IgG level	ORPHA:319251
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia	OMIM:619644
Retinal Venous Beading	Neutropenia	OMIM:180080
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Brain abscess, Neutrophilia	ORPHA:54251
Igg4-Related Kidney Disease	Increased circulating IgG1 level, Decreased serum complement C3, Complement deficiency, Decreased...	ORPHA:449395
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating IgA level, Exocrine pancreatic insufficiency, Lymphopenia, Decreased circul...	OMIM:620005
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia	ORPHA:79477
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po...	OMIM:258900
Hyper-Igd Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating ...	OMIM:260920
Cyclic Neutropenia	Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic neutropenia, Pe...	ORPHA:2686
Japanese Encephalitis	Increased circulating antibody level, Neutrophilia, Increased circulating IgM level	ORPHA:79139
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Pancreatitis, Impaired T cell function, Abnormal lymphocyte physiology, Abnormal pro...	ORPHA:1830
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test	OMIM:618624
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I...	ORPHA:98850
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
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly	OMIM:618398
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor...	ORPHA:98849
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Anemia, Lymphopenia	ORPHA:935
Brucellosis	Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Thrombocytosis, Increase...	ORPHA:1304
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Hereditary Folate Malabsorption	Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy...	ORPHA:90045
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Igg4-Related Ophthalmic Disease	Increased circulating IgG4 level, Eosinophilia, Increased circulating IgE level	ORPHA:449563
Waldenström Macroglobulinemia	Splenomegaly, Cryoglobulinemia, Normocytic anemia, Abnormality of neutrophils, Monoclonal immunog...	ORPHA:33226
Apc-Related Attenuated Familial Adenomatous Polyposis	Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod...	ORPHA:247806
Vici Syndrome	Gray matter heterotopia, Decreased circulating IgG level, Decreased T cell activation, Decreased ...	OMIM:242840
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr...	ORPHA:508542
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:540
Staphylococcal Necrotizing Pneumonia	Leukopenia, Neutrophilia, Leukocytosis	ORPHA:36238
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis	ORPHA:86884
Immune Deficiency Disease	Decreased circulating total IgM	OMIM:242850
Spondyloenchondrodysplasia With Immune Dysregulation	Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia	OMIM:607944
Immunodeficiency 47	Splenomegaly, Decreased circulating total IgA, Leukopenia, Accessory spleen, Normocytic anemia, D...	OMIM:300972
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Lymphopenia, Hepatic cysts	OMIM:617425
3-Methylglutaconic Aciduria, Type Viia	Anemia, Anisopoikilocytosis, Neutropenia	OMIM:619835
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,...	OMIM:619381
Sweet Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:3243
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Panhypogammaglobuli...	OMIM:307200
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat...	ORPHA:99829
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Syndromic Diarrhea	Lymphopenia, Hepatomegaly, Hepatoblastoma, Splenomegaly, Cirrhosis, Hypoplasia of the thymus, Pan...	ORPHA:84064
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt...	OMIM:615688
Legionnaires Disease	Pancreatitis, Lymphopenia, Splenomegaly, Hepatitis, Bone marrow hypocellularity, Lymphadenopathy,...	ORPHA:549
Prolidase Deficiency	Increased circulating antibody level, Anemia, Thrombocytopenia, Splenomegaly	OMIM:170100
Schimke Immunoosseous Dysplasia	Lymphopenia, Thrombocytopenia, Pancytopenia, Elevated circulating thyroid-stimulating hormone con...	OMIM:242900
Coccidioidomycosis	Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level, Increased circ...	ORPHA:228123
Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca...	ORPHA:220460
Congenital Enterovirus Infection	Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia	ORPHA:292
Dyskeratosis Congenita, Digenic	Decreased circulating IgA level, Anemia, Decreased circulating IgG level, Decreased circulating t...	OMIM:620040
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Thrombocytopenia, Increased circulating IgA level, Increased ci...	ORPHA:79078
Popov-Chang syndrome	Decreased circulating antibody level, Lymphopenia	OMIM:618428
Mevalonic Aciduria	Leukocytosis, Fluctuating splenomegaly, Increased circulating IgD level, Normocytic hypoplastic a...	OMIM:610377
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Whim Syndrome	Lymphopenia, Lymphadenitis, Decreased circulating antibody level, Neutropenia, Parotitis, Abnorma...	ORPHA:51636
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Dyskeratosis Congenita, Autosomal Dominant 1	Lymphopenia, Cirrhosis, Aplastic anemia, Bone marrow hypocellularity, Anemia, Thrombocytopenia	OMIM:127550
Cystic Echinococcosis	Increased circulating antibody level, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst	ORPHA:400
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:617062
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Crimean-Congo Hemorrhagic Fever	Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Increased ...	ORPHA:99827
Wolcott-Rallison Syndrome	Neutropenia, Lymphocytosis, Iron deficiency anemia	ORPHA:1667
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Bone marrow hypocellularity, Thrombocytop...	OMIM:613989
Immunodeficiency 49	Eosinophilia, Lymphopenia	OMIM:617237
Large Congenital Melanocytic Nevus	Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin	ORPHA:626
Secondary Intestinal Lymphangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Decreased circulat...	ORPHA:90363
Chediak-Higashi Syndrome	Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric...	OMIM:214500
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia	OMIM:246400
Cowden Syndrome 1	Hydrocele testis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Decreased circulati...	OMIM:158350
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:612301
Gardner Syndrome	Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci...	ORPHA:79665
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatomegaly, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, H...	OMIM:612541
Bloom Syndrome	Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati...	ORPHA:125
Familial Adenomatous Polyposis 1	Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade...	OMIM:175100
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Primary Biliary Cholangitis	Increased circulating IgA level, Increased circulating IgM level	ORPHA:186
Infantile Myofibromatosis	Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o...	ORPHA:2591
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Decreased circulating IgA level, Leukemia	OMIM:208910
Progressive Osseous Heteroplasia	Sarcoma	ORPHA:2762
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:615577
C3 Glomerulopathy	Decreased serum complement C3, Decreased serum complement C4, Paraproteinemia	ORPHA:329918
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Mogs-Cdg	Decreased circulating IgA level, Decreased circulating IgG level, Hepatosplenomegaly, Decreased c...	ORPHA:79330
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Ab...	OMIM:181000
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Abscess, Neutrophilia, Splenomegaly	OMIM:612852
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
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
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Abnormal spleen morphology, Eosinophilia...	ORPHA:284
Primary Sjögren Syndrome	Increased circulating antibody level, Lymphopenia, Decreased serum complement C3, Complement defi...	ORPHA:289390
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia	ORPHA:391307
Wiskott-Aldrich Syndrome	Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function...	ORPHA:906
Nephrotic Syndrome, Type 14	Adrenal insufficiency, Lymphopenia, Hypothyroidism, Hypogonadism, Cryptorchidism	OMIM:617575
Mirage Syndrome	Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Leukopenia, H...	OMIM:617053
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancytopenia	OMIM:613385
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Xq28 (MECP2) duplication

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