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Gene: Cd6 MGI:103566

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

CD6 antigen

Synonyms:

N/A

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 Cd6 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 Cd6 (0 diseases)
Human diseases predicted to be associated with Cd6 (333 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cd6 by phenotypic similarity.

Disease	Matching phenotypes	Source
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Immunodeficiency 18	Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin...	OMIM:615615
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop...	OMIM:618459
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A...	OMIM:613493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl...	OMIM:619707
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618987
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr...	OMIM:619924
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ...	OMIM:618944
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul...	OMIM:613500
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count	OMIM:613495
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ...	OMIM:620430
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga...	OMIM:613502
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs...	OMIM:607271
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula...	OMIM:612692
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Ne...	OMIM:619281
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia...	OMIM:300400
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Anemia, Partial absence of specific antibody r...	OMIM:301082
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo...	OMIM:153600
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence...	OMIM:607594
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel...	OMIM:615513
Immunodeficiency 11A	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr...	OMIM:615206
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n...	OMIM:615401
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti...	OMIM:611926
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ...	OMIM:619705
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c...	OMIM:619510
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating...	OMIM:613501
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ...	OMIM:615214
Immunodeficiency 61	Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level	OMIM:300310
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp...	OMIM:619846
Immunodeficiency 52	Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod...	OMIM:617514
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas...	OMIM:614069
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating IgE, Pancytopenia, Decreased proportion of memory...	OMIM:618394
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel...	OMIM:615592
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Abnormal T ce...	OMIM:240500
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ...	ORPHA:98813
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Part...	OMIM:618261
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:301081
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos...	OMIM:618982
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia	OMIM:619773
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immunodeficiency 96	Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-...	OMIM:619774
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased circulating tot...	OMIM:620210
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Splenomegal...	OMIM:269840
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease...	OMIM:615767
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr...	OMIM:619802
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,...	OMIM:619752
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia	OMIM:247800
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc...	OMIM:618534
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased circulating IgG leve...	OMIM:616100
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
Immunodeficiency 57 With Autoinflammation	Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe...	OMIM:618108
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level...	OMIM:608106
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o...	OMIM:610163
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,...	OMIM:241600
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Increased circulating IgG level, Neutropen...	OMIM:619220
Immunodeficiency 10	Increased circulating IgG3 level, Autoimmune hemolytic anemia, Increased circulating IgA level, A...	OMIM:612783
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun...	ORPHA:35078
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c...	OMIM:308240
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Immunodeficiency 9	Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly...	OMIM:612782
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Immunodeficiency 22	Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p...	OMIM:615758
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ...	OMIM:601859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B...	OMIM:102700
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616910
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul...	OMIM:212050
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m...	OMIM:202700
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:618116
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
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
Autoimmune Lymphoproliferative Syndrome, Type Iii	Decreased circulating complement C3 concentration, Autoimmune hemolytic anemia, Absent isohemaggl...	OMIM:615559
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,...	OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys...	OMIM:613101
Immunodeficiency 92	Abnormal B cell proliferation, Thrombocytosis, Decreased proportion of class-switched memory B ce...	OMIM:619652
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc...	ORPHA:90362
Transcobalamin Ii Deficiency	Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu...	OMIM:275350
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Thrombocytop...	OMIM:618048
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	ORPHA:436159
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ...	OMIM:603909
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Immunodeficiency 115 With Autoinflammation	Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc...	OMIM:620632
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Adult Idiopathic Neutropenia	Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia	ORPHA:2688
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia	ORPHA:158014
Agammaglobulinemia, X-Linked	Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig...	OMIM:300755
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis	OMIM:618042
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody level, Splenom...	ORPHA:397596
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L...	ORPHA:277
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Pancytopenia, Lymphocytosis, Decreased lymphocyte apoptosis...	OMIM:614470
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Decreased circulating antibody level	OMIM:301045
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De...	OMIM:617780
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Leukopenia	ORPHA:33355
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame...	OMIM:615285
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase...	OMIM:308230
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Cutaneous abscess, Eosinophilia...	OMIM:243700
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Splenomegaly	OMIM:300635
Immunodeficiency 27A	Anemia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Hepatospl...	OMIM:209950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a...	OMIM:600802
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	ORPHA:221139
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir...	ORPHA:169160
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Anemia, Splenomegaly	ORPHA:100025
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level...	OMIM:601495
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibo...	OMIM:613011
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:615577
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia	OMIM:615190
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Decreased circulating IgG level...	OMIM:301078
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela...	OMIM:301000
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia	OMIM:616576
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:620040
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased proportion of CD3-posit...	ORPHA:276
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Immunodeficiency 114, Folate-Responsive	Increased circulating IgE level, Megaloblastic anemia, Decreased circulating IgG level, Thrombocy...	OMIM:620603
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir...	ORPHA:169154
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Hepatosple...	OMIM:615122
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a...	ORPHA:572
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Chronic decreased circulati...	OMIM:300972
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev...	OMIM:602450
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Neutr...	ORPHA:331235
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Impaired Ig class switch recombination	OMIM:608184
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Mogs-Cdg	Decreased circulating antibody level, Decreased circulating IgG level, Hepatosplenomegaly, Thromb...	ORPHA:79330
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level	OMIM:215250
Osteopetrosis, Autosomal Recessive 7	Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total IgM, Decreased...	OMIM:612301
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:617744
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop...	OMIM:606367
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decreased circulat...	ORPHA:508533
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Anemia, Increased B cell count, Increased T ce...	OMIM:620376
Familial Hemophagocytic Lymphohistiocytosis	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, H...	ORPHA:540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level, Reduced natural killer cell cou...	OMIM:242860
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Ataxia-Telangiectasia	Decreased circulating antibody level, Lymphopenia	ORPHA:100
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Icf Syndrome	Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia	ORPHA:2268
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytopenia, Eosin...	ORPHA:90045
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Thrombocytop...	OMIM:620005
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Secondary Intestinal Lymphangiectasia	Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, Decreased ci...	ORPHA:90363
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Anemia, Panhypogammaglobulinemia, Pancytopen...	ORPHA:79124
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Thrombocytopenia	ORPHA:83313
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Increased circulating IgA level, Leukocytosis, Incr...	OMIM:617099
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:607143
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia	OMIM:618165
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Maternal Uniparental Disomy Of Chromosome 1	Panhypogammaglobulinemia, Pancytopenia	ORPHA:251009
Bloom Syndrome	Acute myeloid leukemia, Decreased proportion of CD4-positive T cells, Abnormal proportion of CD8-...	ORPHA:125
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	OMIM:615952
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Immunodeficiency 12	Complete or near-complete absence of specific antibody response to tetanus vaccine, Abnormal lymp...	OMIM:615468
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Bloom Syndrome	Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased circulating total IgM, Decrea...	OMIM:210900
Roifman Syndrome	Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly	ORPHA:353298
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Griscelli Syndrome	Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thro...	ORPHA:381
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anemia, B lymphocytopenia, Decreased proportion of naive T cells...	OMIM:619381
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Increased circulating IgE level, Cutaneous abscess, Eosinophilia, Decreased circ...	OMIM:618282
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:243150
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Decreased specific pneumococcal antibody level, Decreased circulating IgG level, D...	ORPHA:183675
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Aregenerative Anemia	Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni...	ORPHA:101096
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Decreased circulating antibody level, Hepatosplenomegaly, Microcytic anemia	OMIM:619750
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Splenomegaly, Lymphopenia	OMIM:605309
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level...	ORPHA:74
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level...	OMIM:615816
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormal natural killer cell...	ORPHA:158061
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Abn...	ORPHA:158057
Netherton Syndrome	Hypereosinophilia, Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Autosomal Agammaglobulinemia	Agammaglobulinemia, Neutropenia	ORPHA:33110
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic...	OMIM:208900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Anemia, Lymphopenia	ORPHA:935
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Neutropenia	ORPHA:47
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Decreased circulating antibody level, Anemia	ORPHA:169105
Thymoma	Aplastic anemia, Abnormal lymphocyte physiology, Decreased circulating antibody level, Pure red c...	ORPHA:99867
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul...	OMIM:242900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Lymphopenia	OMIM:617425
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level, Anemia, Thrombocytosis, Iron deficiency anemia	OMIM:226300
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	ORPHA:420741
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel...	OMIM:613179
Common Variable Immunodeficiency	Decreased circulating antibody level, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hem...	ORPHA:1572
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com...	ORPHA:79324
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased circulating antibody level...	ORPHA:293978
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ...	OMIM:603554
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,...	ORPHA:91139
Mucopolysaccharidosis-Plus Syndrome	Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Leukopenia, Splenomegaly, T...	OMIM:617303
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th...	OMIM:614576
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Multiple Myeloma	Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a...	ORPHA:29073
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggregation, Decrea...	ORPHA:79329
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227990
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Cowden Syndrome 1	Decreased circulating antibody level, Lymphopenia	OMIM:158350
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:606056
Immunodeficiency 58	Decreased circulating antibody level, Decreased specific antibody response to vaccination, Recurr...	OMIM:618131
Mannosidosis, Alpha B, Lysosomal	Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly	OMIM:248500
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Whim Syndrome	Decreased circulating antibody level, Neutropenia, Abnormal neutrophil morphology, Lymphopenia	ORPHA:51636
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Anemia, Pancytopenia, Decreased circulating antibody level, Leukocytosis, Bone marrow hypocellula...	OMIM:615688
Vici Syndrome	Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4...	OMIM:242840
Sweet Syndrome	Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic lympha...	ORPHA:3243
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227982
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc...	OMIM:251260
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hypersplenism, Decreased circulating IgA level, Splenomegaly, Pancytopenia	OMIM:613385
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre...	ORPHA:297
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia...	ORPHA:3132
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I...	ORPHA:70578
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Decreased circulating Ig...	OMIM:618278
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Decreased circulating IgG level, Increased circulating IgM level, Bone marrow hypocellula...	ORPHA:505248
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Iron deficiency anemia, Thrombocytosis, Macrocytic anemia	OMIM:212750
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level, Anemia, Thrombocytopenia	ORPHA:319251
Primary Sjögren Syndrome	Decreased circulating complement C3 concentration, Normocytic anemia, Increased circulating antib...	ORPHA:289390
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Abnormal circulating interleukin concentration, Incr...	ORPHA:542323
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level, Granuloma	ORPHA:562639
Japanese Encephalitis	Increased circulating IgM level, Neutrophilia, Increased circulating antibody level	ORPHA:79139
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis	OMIM:212065
Syndromic Diarrhea	Panhypogammaglobulinemia, Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly,...	ORPHA:84064
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level, Splenomegaly	OMIM:613327
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Decreased circulating antibody level, Anemia	ORPHA:79396
Hennekam Syndrome	Decreased circulating antibody level, Splenomegaly, Lymphopenia	ORPHA:2136
Brucellosis	Lung abscess, Liver abscess, Anemia, Increased circulating IgG level, Leukocytosis, Granuloma, In...	ORPHA:1304
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	OMIM:617062
Lysinuric Protein Intolerance	Anemia, Increased circulating antibody level, Hemophagocytosis, Decreased circulating antibody le...	ORPHA:470
Trichohepatoenteric Syndrome 1	Thrombocytosis, Increased mean platelet volume, Decreased circulating antibody level, Splenomegaly	OMIM:222470
Cartilage-Hair Hypoplasia	Decreased circulating antibody level, Anemia, Neutropenia	ORPHA:175
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Anemia, Panhypogammaglobulinemia, Neutropenia	ORPHA:33364
Leukocyte Adhesion Deficiency Type Ii	Anemia, Leukocytosis, Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia	ORPHA:99843
Coccidioidomycosis	Increased circulating IgG level, Granuloma, Increased circulating IgM level, Abnormality of the s...	ORPHA:228123
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Dubowitz Syndrome	Aplastic anemia, Decreased circulating IgG level, Acute lymphoblastic leukemia, Decreased circula...	OMIM:223370
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG4 leve...	ORPHA:79078
Yellow Fever	Increased circulating interleukin 6 concentration, Leukocytosis, Increased circulating IgM level,...	ORPHA:99829
Primary Biliary Cholangitis	Increased circulating IgA level, Increased circulating IgM level, Splenomegaly	ORPHA:186
Thrombocytopenia-Absent Radius Syndrome	Anemia, Decreased circulating antibody level, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia,...	OMIM:274000
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Abnormal circulating interleukin concentration	ORPHA:85410
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration	ORPHA:319552
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased circulating antibody level, Hepatosplenomegaly, Anemia	ORPHA:247598
Gaucher Disease	Anemia, Increased circulating antibody level, Pancytopenia, Splenic infarction, Splenic rupture, ...	ORPHA:355
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Neu...	ORPHA:99827
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM, Hepatosplenomegaly, Splenomegaly	ORPHA:171
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
Viss Syndrome	Increased circulating IgG level, Hypereosinophilia, Increased circulating IgE level, Decreased ci...	OMIM:619472
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	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

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 Cd6

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 Cd6.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Experimental and genetic evidence for the impact of CD5 and CD6 expression and variation in inflammatory bowel disease.	Frontiers in immunology (September 2022)	Cd6^{tm1(KOMP)Wtsi}	PMC9532939
CD6 deficiency impairs early immune response to bacterial sepsis.	iScience (September 2022)	Cd6^{tm1(KOMP)Wtsi}	PMC9490029

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
Cd6^{tm174496(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cd6^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Cd6^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cd6^{tm210898(L1L2_Pgk_P)}	Reporter-tagged deletion allele (with selection cassette)	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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