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Gene: Dock8 MGI:1921396

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Dock8 (2 diseases)
Human diseases predicted to be associated with Dock8 (423 diseases)

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		T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections		Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ...	OMIM:243700

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

Disease	Matching phenotypes	Source
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c...	OMIM:614493
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ...	OMIM:300400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ...	OMIM:615401
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Immunodeficiency 104	T lymphocytopenia, Splenomegaly	OMIM:608971
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph...	ORPHA:169154
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto...	OMIM:615607
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, T lymphocytopenia, B lymphocytopenia	ORPHA:277
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:616100
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio	OMIM:617006
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Systemic Lupus Erythematosus 16	Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib...	OMIM:614420
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo...	ORPHA:911
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce...	OMIM:308240
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an...	ORPHA:444463
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp...	OMIM:620632
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ...	OMIM:600802
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D...	ORPHA:90362
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly	ORPHA:100024
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Lymphedema, Primary, With Myelodysplasia	Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio	OMIM:614038
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA...	OMIM:102700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology	OMIM:616910
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Reduced delayed hypersensitivity, Hepatomegaly, Chronic noninfectious lym...	OMIM:603909
Congenital Disorder Of Glycosylation, Type Iir	Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome...	OMIM:301045
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Impaired Ig class switch r...	OMIM:308230
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp...	OMIM:613101
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:436159
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Autoimmune hemoly...	OMIM:614700
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia...	OMIM:275350
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody...	OMIM:618116
Burkitt Lymphoma	Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells	ORPHA:543
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Lymp...	OMIM:300755
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	ORPHA:276
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly...	OMIM:618495
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat...	ORPHA:169160
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Immunodeficiency 27A	Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,...	OMIM:209950
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Abnormal myelination, Gray matter heterotopia, Dysgyria	ORPHA:352682
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ...	OMIM:243700
Insulin Autoimmune Syndrome	Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu...	ORPHA:411593
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Decreased lymphocyte proliferation in re...	ORPHA:572
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils, Decreased circu...	ORPHA:33355
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym...	ORPHA:397596
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia	OMIM:242860
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ...	OMIM:301000
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Decreased circu...	OMIM:300972
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi...	ORPHA:331235
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatitis, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased...	OMIM:300635
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Alpha-Heavy Chain Disease	Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells	ORPHA:133
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	ORPHA:221139
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Pancytopenia	OMIM:617341
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Increased circulating IgM level	ORPHA:37748
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou...	ORPHA:79124
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep...	OMIM:615122
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3...	ORPHA:760
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination	ORPHA:401820
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio...	ORPHA:508533
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec...	OMIM:601495
Mogs-Cdg	Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Decreased c...	ORPHA:79330
Dyskeratosis Congenita, Digenic	Anemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating t...	OMIM:620040
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp...	OMIM:617099
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig...	ORPHA:83313
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Anemia, Decreased...	OMIM:612301
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos...	ORPHA:275
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells	ORPHA:66628
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, Ex...	OMIM:620005
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Bloom Syndrome	Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Decrease...	ORPHA:125
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells	ORPHA:179494
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Increased circulating interleukin 6 concentration, Cholestasis, Hepatosplenomeg...	OMIM:620376
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Decreased proportion of naive T cells, Coombs-positive ...	ORPHA:83471
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Cirrhosis, Decrea...	ORPHA:90363
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen...	ORPHA:381
Ataxia-Telangiectasia	Lymphopenia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus	ORPHA:100
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	OMIM:619381
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Lambert Syndrome	Cholestasis, Jaundice, Intrahepatic biliary atresia, Decreased circulating antibody level	ORPHA:1296
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia	OMIM:618223
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Abnormal myelination	ORPHA:85179
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Systemic lupus erythema...	ORPHA:48377
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Mhc Class Ii Deficiency 1	Cutaneous anergy, Panhypogammaglobulinemia, Biliary tract abnormality, Agammaglobulinemia, Neutro...	OMIM:209920
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia...	OMIM:618282
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent tonsil...	ORPHA:183675
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Increased circulating interleukin 6 concentration, Hemophagocytosis, I...	ORPHA:540
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Hepatic steatosis, Decreased ci...	OMIM:210900
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Interface hepatitis, Autoimmune hemolytic anemia, Leukocytosis, Agammaglobulinemia, ...	OMIM:243150
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia	OMIM:607944
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulating antibody level, Auto...	OMIM:615952
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Immunodeficiency 12	Complete or near-complete absence of specific antibody response to tetanus vaccine, Abnormal lymp...	OMIM:615468
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod...	ORPHA:90045
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,...	OMIM:615934
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, He...	OMIM:617388
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu...	OMIM:615816
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi...	ORPHA:169105
Pemphigus Erythematosus	Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Macrocephaly/Autism Syndrome	Hepatomegaly, Lymphopenia, Decreased circulating antibody level, Splenomegaly	OMIM:605309
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy	ORPHA:353298
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level	OMIM:618165
X-Linked Agammaglobulinemia	Hepatitis, Abnormality of the lymphatic system, Agammaglobulinemia, Abnormality of the tonsils, N...	ORPHA:47
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy	OMIM:619750
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas	ORPHA:935
Vici Syndrome	Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, T lymp...	OMIM:242840
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha...	ORPHA:1572
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:420741
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Thrombocyto...	OMIM:242900
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Autosomal Agammaglobulinemia	Agammaglobulinemia, Hepatitis, Neutropenia	ORPHA:33110
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Immunodeficiency 59 And Hypoglycemia	Prolonged neonatal jaundice, Complete or near-complete absence of specific antibody response to u...	OMIM:233600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Decreased circulating antibody level, Hepatic cysts	OMIM:617425
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Autoimmune Hepatitis	Viral hepatitis, Splenomegaly, Sclerosing cholangitis, Increased circulating antibody level, Jaun...	ORPHA:2137
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Absent circulating B cells, Enteroviral hepatitis, Panhypogammaglobulinemia	OMIM:307200
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physiology, Leukemia, Pure ...	ORPHA:99867
Sjogren Syndrome	Rheumatoid arthritis, Autoimmunity	OMIM:270150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Thrombocytosis, Hepatomegaly, Decrea...	OMIM:226300
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Increased circulating IgE level, Reduced circulating complement con...	ORPHA:449432
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Annular pancreas	OMIM:618162
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia	ORPHA:293978
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Decreased c...	ORPHA:83617
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia	OMIM:256500
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227990
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Thrombocytopeni...	OMIM:617303
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Granuloma, Cholestasis, Interface hepatitis, Sclerosing cholangitis, G...	ORPHA:562639
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Cholestasis, Pan...	OMIM:614576
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Splenomegaly, Portal hyp...	OMIM:613385
Gaisböck Syndrome	Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce...	ORPHA:90041
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Abnormal myelination	ORPHA:289266
Immunodeficiency 56	Cholangitis, Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Panhypogammaglobulinemia	OMIM:615207
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227982
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG...	ORPHA:29073
Pelizaeus-Merzbacher Disease, Connatal Form	Pachygyria, Cerebral hypomyelination, Abnormal myelination	ORPHA:280210
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Decreased circulating an...	ORPHA:51636
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai...	ORPHA:79329
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly	OMIM:248500
Cowden Syndrome 1	Lymphopenia, Decreased circulating antibody level	OMIM:158350
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Reduced ...	ORPHA:289390
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Immunodeficiency 58	Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cell activati...	OMIM:618131
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Ret...	OMIM:618278
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Macrov...	OMIM:613070
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination	OMIM:617333
Syndromic Diarrhea	Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ...	ORPHA:84064
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Thr...	ORPHA:505248
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality of the liver, Hepat...	ORPHA:1304
Tick-Borne Encephalitis	Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase...	ORPHA:297
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegaly, Abnormal intra...	ORPHA:186
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormal myelination	ORPHA:442835
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis	OMIM:613327
Rift Valley Fever	Hepatitis, Thrombocytopenia, Increased circulating IgG level, Anemia, Jaundice, Increased circula...	ORPHA:319251
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Lassa Fever	Jaundice, Increased circulating IgM level	ORPHA:99824
Igg4-Related Kidney Disease	Lymphadenitis, Increased circulating IgE level, Reduced circulating complement concentration, Inc...	ORPHA:449395
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Biliary cirrhosis, Leukopenia, Increased...	ORPHA:2298
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Hepatic fibrosis, Decreased circulating IgA level, Hepatic steat...	OMIM:212065
Hennekam Syndrome	Lymphopenia, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, Pulmonary lymph...	ORPHA:2136
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abnormality of the liver, Abscess, Eosinophilia, Peritoniti...	ORPHA:228123
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Cholestasis, Splenomegaly, Cirrhosis, Thrombocytosis, Hepatomegaly, Jaundice, D...	OMIM:222470
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Hepatic amyloidosis, Reduced circulating compl...	ORPHA:470
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level, Neutrophilia	ORPHA:79139
Cartilage-Hair Hypoplasia	Anemia, Neutropenia, Hepatomegaly, Decreased circulating antibody level, Abnormality of the pancreas	ORPHA:175
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A...	OMIM:223370
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hypertension...	ORPHA:171
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Lymphadenopathy, Thrombocytope...	ORPHA:79078
Trichothiodystrophy	Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia, Panhypogammaglobulinemia	ORPHA:33364
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Pancytopenia, Leukopenia, Leukocytosis, Cholecystitis, Splenomeg...	ORPHA:99827
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splenomegaly, Increased ...	ORPHA:355
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Leukocytosis, Anemia, Abnormal isohemagglutinin level, Neutrophilia, Hepatomegaly	ORPHA:99843
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Decreased circulating antibody level, Leukocytosis, Eosinophilia, Thrombocyto...	OMIM:274000
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Decreased circulating antibody level	ORPHA:79396
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Anemia, Hepatomegaly, Jaundice, Decreased cir...	ORPHA:247598
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Yellow Fever	Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating inter...	ORPHA:99829
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Abnormal myelination, Mixed demyelinating and axonal polyneuropathy	ORPHA:466768
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Abnormal CNS myelination, Abnormal myelination, Polymicrogyria	OMIM:620371
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Abnormal myelination, Delayed myelination	ORPHA:404454
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin...	ORPHA:91500
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
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level...	OMIM:619472
Degcags Syndrome	Abnormal myelination	OMIM:619488
Orofaciodigital Syndrome Type 14	Abnormal myelination, Periventricular heterotopia	ORPHA:434179
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency, Absent gallbladder	ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Asplenia, Decreased circulating antibody level	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Decreased circulating antibody level	ORPHA:261552

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dock8^{tm380463(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dock8^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dock8^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dock8^{tm410044(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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