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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
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
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, 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 total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Immunodeficiency, partial combined, with absence of hla determinantsand 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
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Reduced natural killer cell activity, Decreased ci... OMIM:619281
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
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
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... OMIM:615401
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... OMIM:617514
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
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
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part... OMIM:618261
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level 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
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... 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, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease... OMIM:619802
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... OMIM:616100
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... OMIM:612783
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:102700
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616910
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... 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
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut... OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Thro... OMIM:613101
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion... ORPHA:90362
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... OMIM:275350
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:436159
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:603909
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
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
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u... OMIM:620632
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia ORPHA:158014
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Activated Pi3K-Delta Syndrome
Decreased circulating antibody level, Increased circulating IgM level, Splenomegaly, B lymphocyto... ORPHA:397596
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho... ORPHA:277
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618986
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Reticular Dysgenesis
Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils ORPHA:33355
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... OMIM:243700
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Decreased circulating antibody level OMIM:300635
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG... OMIM:209950
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
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:221139
Alpha-Heavy Chain Disease
Anemia, Dysgammaglobulinemia, Splenomegaly ORPHA:100025
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... ORPHA:169160
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec... OMIM:601495
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... OMIM:301000
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Dyskeratosis Congenita, Digenic
Anemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating t... OMIM:620040
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... ORPHA:169154
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep... OMIM:615122
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Decreased lymphocyte proliferation in re... ORPHA:572
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... 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 With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:608184
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Mogs-Cdg
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Thrombocyto... 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
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Decreased circula... OMIM:612301
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Decreased circulating IgA ... OMIM:620376
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf... ORPHA:540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ... OMIM:242860
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level ORPHA:100
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... ORPHA:90045
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... OMIM:620005
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Decreased circula... ORPHA:90363
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... ORPHA:79124
Boutonneuse Fever
Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia ORPHA:83313
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level OMIM:618165
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:125
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Decreased circulating antibody level, Autoimmune hemolytic anemia, Eosinophil... OMIM:615952
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Decreased circulat... ORPHA:275
Immunodeficiency 17
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... OMIM:615607
Immunodeficiency 12
Abnormal lymphocyte count, Absent isohemagglutinin level, Complete or near-complete absence of sp... OMIM:615468
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:210900
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level ORPHA:353298
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Griscelli Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality of neutrophi... ORPHA:381
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:619381
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... OMIM:618282
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy... OMIM:243150
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Decreased circul... ORPHA:183675
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level OMIM:619750
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Macrocephaly/Autism Syndrome
Lymphopenia, Decreased circulating antibody level, Splenomegaly OMIM:605309
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Immunodeficiency 23
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu... OMIM:615816
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Autosomal Agammaglobulinemia
Agammaglobulinemia, Neutropenia ORPHA:33110
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Agammaglobulinemia ORPHA:935
X-Linked Agammaglobulinemia
Agammaglobulinemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation ORPHA:47
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Absent circulating B cells, Panhypogammaglobulinemia OMIM:307200
Good Syndrome
Anemia, Decreased circulating antibody level, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physiology, Leukemia, Pure ... ORPHA:99867
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Thrombocyto... OMIM:242900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis OMIM:226300
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA 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
Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia ORPHA:83617
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Common Variable Immunodeficiency
Lymphopenia, Decreased circulating antibody level, Splenomegaly, 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
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased ... ORPHA:293978
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Inc... OMIM:617303
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp... OMIM:614576
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased... ORPHA:29073
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai... ORPHA:79329
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Decr... ORPHA:227990
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Immunodeficiency 58
Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cell activati... OMIM:618131
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly OMIM:248500
Immunodeficiency 56
Panhypogammaglobulinemia OMIM:615207
Whim Syndrome
Abnormal neutrophil morphology, Lymphopenia, Decreased circulating antibody level, Neutropenia ORPHA:51636
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... OMIM:615688
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... OMIM:242840
Sweet Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:3243
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Decr... ORPHA:227982
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... OMIM:251260
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Splenomegaly, Decreased circulating IgA level, Hypersplenism OMIM:613385
Tick-Borne Encephalitis
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase... ORPHA:297
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Lassa Fever
Increased circulating IgM level ORPHA:99824
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosi... OMIM:618278
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Thr... ORPHA:505248
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Rift Valley Fever
Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:319251
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Leukopenia, Decreased circulating complement C3 concentration, De... 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
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, Increased circulating antibody level, Neutrophilia ORPHA:79139
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis OMIM:212065
Syndromic Diarrhea
Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, In... 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
Anemia, Decreased circulating antibody level ORPHA:79396
Hennekam Syndrome
Lymphopenia, Decreased circulating antibody level, Splenomegaly ORPHA:2136
Brucellosis
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Lung abscess, Thrombocytopenia,... ORPHA:1304
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Reduced circulating complement concentration, ... ORPHA:470
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Trichohepatoenteric Syndrome 1
Decreased circulating antibody level, Thrombocytosis, Splenomegaly, Increased mean platelet volume OMIM:222470
Cartilage-Hair Hypoplasia
Anemia, Decreased circulating antibody level, Neutropenia ORPHA:175
Trichothiodystrophy
Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia, Panhypogammaglobulinemia ORPHA:33364
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Abnormal isohemagglutinin level, Neutrophilia, Anemia ORPHA:99843
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Increased circulating IgG level, Inc... ORPHA:228123
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A... OMIM:223370
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci... ORPHA:79078
Yellow Fever
Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating interleukin 6 concentration, ... ORPHA:99829
Primary Biliary Cholangitis
Increased circulating IgA level, Splenomegaly, Increased circulating IgM level ORPHA:186
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Decreased circulating a... OMIM:274000
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hepatosplenomegaly, Decreased circulating antibody level ORPHA:247598
Gaucher Disease
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Increased circulating antibody level,... ORPHA:355
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia, Increased c... ORPHA:99827
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly ORPHA:171
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
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
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 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) Cd6tm1(KOMP)Wtsi PMC9532939
CD6 deficiency impairs early immune response to bacterial sepsis. iScience (September 2022) Cd6tm1(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
Cd6tm174496(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cd6tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cd6tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cd6tm210898(L1L2_Pgk_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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