Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dedicator of cytokinesis 8
Synonyms:
5830472H07Rik,  A130095G14Rik,  1200017A24Rik

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 Dock8 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 Dock8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria ORPHA:178469

The table below shows human diseases predicted to be associated to Dock8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 40
Lymphopenia OMIM:616433
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 8
Lymphopenia OMIM:615401
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
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
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Hypoplasia of the... OMIM:300400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
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 104
T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... ORPHA:90283
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Delayed myelination OMIM:618185
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... OMIM:619802
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulating IgG level, Sple... OMIM:616100
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619752
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... OMIM:618986
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly OMIM:619126
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:275350
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
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, ... OMIM:102700
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decreased circulating I... OMIM:308240
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity OMIM:613652
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve... ORPHA:90362
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Lymphedema, Primary, With Myelodysplasia
Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia OMIM:614038
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Hepatomegaly, Lymphocytosis, Leuk... OMIM:619652
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Comp... OMIM:300755
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr... OMIM:613101
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased circulating antibody level, Decreased proportion ... OMIM:301045
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Myeloma, Multiple
Paraproteinemia OMIM:254500
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia ORPHA:2688
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... ORPHA:276
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreas... OMIM:618495
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Abnormal myelination, Gray matter heterotopia, Dysgyria ORPHA:352682
Lymphoproliferative Syndrome 1
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:600903
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... ORPHA:572
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Reticular Dysgenesis
Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia ... ORPHA:33355
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:301000
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... OMIM:615559
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... OMIM:300972
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Decreased circulating a... OMIM:300635
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Autoimmune thrombocytopenia, Chroni... OMIM:613496
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy ORPHA:37748
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis OMIM:215250
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:100025
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess... OMIM:601495
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... OMIM:615122
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Immunodeficiency 61
Agammaglobulinemia OMIM:300310
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... ORPHA:760
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells ORPHA:133
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio... ORPHA:508533
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Eosinophilopenia
Autoimmunity OMIM:131430
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Anemia, Decreased circulating IgG level, Decreased circulating t... OMIM:620040
Immunodeficiency 67
Increased circulating IgE level, Liver abscess, Transient neutropenia OMIM:607676
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec... OMIM:612301
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Decreased circulating IgA level, Lymphopenia, Decreased circul... OMIM:620005
Mogs-Cdg
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Hepatosplenomegal... ORPHA:79330
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:275
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells ORPHA:66628
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... ORPHA:83313
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells ORPHA:179494
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination OMIM:618324
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Bloom Syndrome
Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati... ORPHA:125
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level, Lymphopenia ORPHA:100
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... OMIM:619381
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Cirrhosis, Decreased circulating total IgM, Decreas... ORPHA:90363
Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, T... ORPHA:83471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Lambert Syndrome
Decreased circulating antibody level, Jaundice, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Icf Syndrome
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia ORPHA:2268
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Viral hepatitis, Decreased circulating IgG level, Recurrent tons... ORPHA:183675
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Panhypogammaglobulinemia, Biliary tract abnormality, Cholangitis, Neutropenia, A... OMIM:209920
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... ORPHA:158048
Ataxia-Telangiectasia
Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased... OMIM:208900
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia ORPHA:251009
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia OMIM:607944
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea... OMIM:210900
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy... ORPHA:449400
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Increased circulating IgA level, Leukopenia, Follicular hyperplasia, Increased circu... OMIM:615934
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Hyp... OMIM:617388
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp... OMIM:615952
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy... ORPHA:90045
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Cystic Fibrosis
Exocrine pancreatic insufficiency, Decreased circulating antibody level, Hepatomegaly, Biliary ci... ORPHA:586
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly ORPHA:353298
Pemphigus Erythematosus
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... ORPHA:79480
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Anemia, Mediastinal lymphadenopathy, Decreased circulatin... ORPHA:169105
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemia, Increased ... OMIM:615816
Tempi Syndrome
Polycythemia, Increased circulating IgG level, Increased hematocrit ORPHA:284227
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology OMIM:618223
X-Linked Agammaglobulinemia
Abnormality of the lymphatic system, Abnormality of the tonsils, Hepatitis, Neutropenia, Agammagl... ORPHA:47
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level, Lymphadenopathy OMIM:619750
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... OMIM:618213
Schimke Immunoosseous Dysplasia
Lymphopenia, Thrombocytopenia, Pancytopenia, Decreased circulating antibody level, Abnormal immun... OMIM:242900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating antibody level, Autoimmune thrombocytopenia, Abno... ORPHA:293978
Riddle Syndrome
Generalized lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, De... ORPHA:420741
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Decreased circulating a... ORPHA:1572
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Lymphopenia, Hepatic cysts OMIM:617425
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Severe B lymphocytopenia, Decreased circulating total IgM, B lympho... ORPHA:83617
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased circulating antibo... OMIM:233600
Autosomal Agammaglobulinemia
Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia OMIM:608809
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity OMIM:270150
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia OMIM:618428
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... ORPHA:2137
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Thymoma
Abnormal lymphocyte physiology, Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell a... ORPHA:99867
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Abnormal pancreas morphology, Complement deficiency, Eosino... ORPHA:449432
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Thymic Tumor
Mediastinal lymphadenopathy, Neoplasm of the thymus, Dysgammaglobulinemia ORPHA:100100
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis, Increased circulating I... OMIM:617303
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Simple Cryoglobulinemia
Viral hepatitis, Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal eleva... ORPHA:91139
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, Ch... ORPHA:562639
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Imp... OMIM:614576
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Decreased proportion of CD4-positiv... OMIM:242840
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... ORPHA:227990
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt... OMIM:615688
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia, Abnormality of the thymus OMIM:208910
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Decreased circulating antibody level, Hepatomegaly, Iron deficiency anemia OMIM:226300
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Absent circulating B cells, Panhypogammaglobulinemia OMIM:307200
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Hepatitis, Portal hypertension, Panc... OMIM:613385
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr... ORPHA:508542
Immunodeficiency 56
Cirrhosis, Chronic hepatitis due to cryptosporidium infection, Cholangitis, Panhypogammaglobulinemia OMIM:615207
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased hematocrit, Increased mean ... ORPHA:90041
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Autoimmune Polyendocrinopathy Type 3
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... ORPHA:227982
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination, Macrogyria ORPHA:280210
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination ORPHA:289266
Whim Syndrome
Lymphopenia, Lymphadenitis, Decreased circulating antibody level, Neutropenia, Abnormality of neu... ORPHA:51636
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... ORPHA:29073
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:248500
Mgat2-Cdg
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Impai... ORPHA:79329
Cowden Syndrome 1
Decreased circulating antibody level, Lymphopenia OMIM:158350
Primary Sjögren Syndrome
Increased circulating antibody level, Chronic active hepatitis, Lymphopenia, Decreased serum comp... ORPHA:289390
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level OMIM:300953
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Hepatomegaly OMIM:606056
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... OMIM:618131
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... ORPHA:3132
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Leukopenia, Hepatosplenomegaly, Increased circulating IgM level,... ORPHA:505248
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Decreased circulating IgG level, Macrovesicular h... OMIM:613070
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Cirrhosis, Hypoplasia of the thymus, Pan... ORPHA:84064
Primary Biliary Cholangitis
Increased circulating IgA level, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Hepatic fibrosis... ORPHA:186
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Abnormality of serum cytokine level, I... ORPHA:297
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Brucellosis
Abnormality of the liver, Hepatomegaly, Leukocytosis, Splenomegaly, Leukopenia, Increased circula... ORPHA:1304
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Insulin-Resistance Syndrome Type B
Decreased serum complement factor B, Increased circulating IgA level, Leukopenia, Increased circu... ORPHA:2298
Rift Valley Fever
Increased circulating IgG level, Hepatitis, Increased circulating IgM level, Anemia, Thrombocytop... ORPHA:319251
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating antibody level OMIM:607143
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Pancreatitis, Decreased serum complement C3, Complement deficie... ORPHA:449395
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:613327
Lassa Fever
Jaundice, Increased circulating IgM level ORPHA:99824
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Thrombocytosis, H... OMIM:212065
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination ORPHA:442835
Coccidioidomycosis
Pancreatitis, Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level, ... ORPHA:228123
Hennekam Syndrome
Lymphangioma, Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating antibo... ORPHA:2136
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the pancreas, Cholestasis, Increased mean p... OMIM:222470
Lysinuric Protein Intolerance
Increased circulating antibody level, Pancreatitis, Hepatomegaly, Hemophagocytosis, Hepatic amylo... ORPHA:470
Japanese Encephalitis
Increased circulating antibody level, Neutrophilia, Increased circulating IgM level ORPHA:79139
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... ORPHA:391487
Dubowitz Syndrome
Decreased circulating IgA level, Acute lymphoblastic leukemia, Aplastic anemia, Decreased circula... OMIM:223370
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Neutropenia, Anemia ORPHA:175
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:171
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Thrombocytopenia, Increased circulating IgG4 level, Retroperiton... ORPHA:79078
Crimean-Congo Hemorrhagic Fever
Hemoperitoneum, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Increased cir... ORPHA:99827
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Trichothiodystrophy
Anemia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Neutropenia ORPHA:33364
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Anemia, Thr... OMIM:274000
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Leukocytosis, Abnormal isohemagglutinin level, Microcytic anemia, Anemia ORPHA:99843
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Monosomy 18Q
Decreased circulating IgA level, Abnormal myelination ORPHA:1600
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Pancreatic hyperpl... ORPHA:99829
Distal Monosomy 19P13.3
Decreased circulating antibody level ORPHA:96129
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Jaundice, Hepatosplenomegaly, Cholestasis, Decreased circulating antibody level, An... ORPHA:247598
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal myelination, Abnormal peripheral myelination, Mixed demyelinating and axonal polyneuropathy ORPHA:466768
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Abnormal myelination, Delayed myelination ORPHA:404454
Cockayne Syndrome Type 3
Abnormal myelination, Demyelinating peripheral neuropathy ORPHA:90324
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination ORPHA:309854
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia ORPHA:93357
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Normocytic anemia, Increased circulating IgG level, Reduced... ORPHA:91500
Degcags Syndrome
Abnormal myelination OMIM:619488
Viss Syndrome
Increased circulating IgE level, Decreased circulating IgA level, Hypereosinophilia, Increased ci... OMIM:619472
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Abnormal myelination ORPHA:434179
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Absent gallbladder, Decreased circulating IgG level ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Decreased circulating antibody level, Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Decreased circulating antibody level, Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Decreased circulating antibody level, Asplenia ORPHA:261552
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria ORPHA:178469

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dock8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dock8.

No publications found that use IMPC mice or data for Dock8.

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MGI Allele Allele Type Produced
Dock8tm380463(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dock8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dock8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dock8tm410044(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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