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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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 Similarity of
phenotypes
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