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Gene: Cd79b MGI:96431

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

CD79B antigen

Synonyms:

Igbeta, Igb, B29, Ig-beta

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 Cd79b 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 Cd79b (2 diseases)
Human diseases predicted to be associated with Cd79b (461 diseases)

The table below shows human diseases associated to Cd79b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Agammaglobulinemia 6, Autosomal Recessive		Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula...	OMIM:612692
Autosomal Agammaglobulinemia		Agammaglobulinemia, Neutropenia	ORPHA:33110

The table below shows human diseases predicted to be associated to Cd79b by phenotypic similarity.

Disease	Matching phenotypes	Source
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia	OMIM:233650
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency 62	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:618459
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl...	OMIM:619707
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo...	OMIM:153600
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Immunodeficiency 18	Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi...	OMIM:615615
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 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul...	OMIM:613500
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating...	OMIM:613501
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count	OMIM:613495
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula...	OMIM:612692
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch...	ORPHA:70593
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ...	OMIM:607271
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga...	OMIM:613502
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia	OMIM:615214
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel...	OMIM:615513
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr...	OMIM:619281
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutro...	OMIM:607594
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level...	OMIM:608106
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia...	OMIM:300400
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6...	OMIM:620430
Immunodeficiency 102	Anemia, Increased circulating interleukin 6 concentration, Partial absence of specific antibody r...	OMIM:301082
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ...	OMIM:619705
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
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 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Immunodeficiency 57 With Autoinflammation	Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe...	OMIM:618108
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Immunodeficiency, Common Variable, 2	Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneumococcus vacci...	OMIM:240500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti...	OMIM:611926
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,...	OMIM:241600
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Increased circulating IgG level, Neutropen...	OMIM:619220
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o...	OMIM:610163
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Immunodeficiency 11A	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr...	OMIM:615206
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas...	OMIM:614069
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, Decreased circulating to...	OMIM:102700
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat...	OMIM:619510
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc...	OMIM:618534
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:301081
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia	OMIM:247800
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport...	OMIM:212050
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 92	Abnormal B cell proliferation, Decreased proportion of class-switched memory B cells, Lymphocytos...	OMIM:619652
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n...	OMIM:615401
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le...	OMIM:618048
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,...	ORPHA:331206
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence of infection, Increased ...	ORPHA:98813
Activated Pi3K-Delta Syndrome	Lymphadenopathy, B lymphocytopenia, Decreased circulating antibody level, Increased circulating I...	ORPHA:397596
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Omenn Syndrome	Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T...	OMIM:603554
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ...	OMIM:601859
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce...	OMIM:618982
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, Bone marrow hy...	OMIM:301078
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ...	OMIM:618944
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Immunodeficiency 96	Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum...	OMIM:619774
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c...	OMIM:308240
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia	ORPHA:217390
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Lymphadenopathy, Decreased circulating antibody level, Decreased cir...	OMIM:616100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev...	OMIM:602450
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm...	ORPHA:100024
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia	OMIM:619773
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Lymphadenopathy, Increased circula...	OMIM:612783
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun...	ORPHA:35078
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
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
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m...	OMIM:202700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,...	OMIM:619752
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Impaired...	OMIM:308230
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat...	OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Increased circulatin...	ORPHA:276
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Adult Idiopathic Neutropenia	Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia	ORPHA:2688
Immunodeficiency 61	Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level	OMIM:300310
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level...	OMIM:601495
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ...	OMIM:603909
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ...	OMIM:607676
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Generalized lymphadenopathy, Lymphadenopathy, Pancytopenia, Decrease...	OMIM:614700
Immunodeficiency 27A	Anemia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Hepatospl...	OMIM:209950
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease...	OMIM:615767
Immunodeficiency, Common Variable, 6	Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:613496
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count	OMIM:616050
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Immunodeficiency 9	Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly...	OMIM:612782
Myeloma, Multiple	Paraproteinemia	OMIM:254500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Lymphadenopat...	ORPHA:169154
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level	OMIM:215250
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro...	OMIM:619374
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep...	ORPHA:158057
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Immunodeficiency 22	Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p...	OMIM:615758
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Dyskeratosis Congenita, Autosomal Recessive 8	B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia	OMIM:620133
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame...	OMIM:615285
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Agammaglobulinemia, X-Linked	Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig...	OMIM:300755
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:300853
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Thrombocytop...	OMIM:620005
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616910
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating antibody level, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology...	ORPHA:293978
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:436159
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural...	OMIM:613101
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:617744
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Pancytopenia, Lymphocytosis, Decreased lymphocyte apoptosis...	OMIM:614470
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:618116
Transcobalamin Ii Deficiency	Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu...	OMIM:275350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia	OMIM:242860
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc...	ORPHA:90362
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Follicular hyperp...	OMIM:615559
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Decreased circ...	OMIM:618282
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an...	ORPHA:444463
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti...	OMIM:600802
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Alpha-Heavy Chain Disease	Lymphadenopathy, Dysgammaglobulinemia, Anemia, Splenomegaly	ORPHA:100025
Immunodeficiency 26 With Or Without Neurologic Abnormalities	B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia	OMIM:615966
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Thrombocytopenia	ORPHA:83313
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly...	ORPHA:221139
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat...	OMIM:619632
Immunodeficiency 115 With Autoinflammation	Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc...	OMIM:620632
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis	OMIM:618042
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Increased circulating IgA level, Leukocytosis, Incr...	OMIM:617099
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ...	OMIM:301074
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased c...	OMIM:613011
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphopenia	OMIM:617827
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic...	OMIM:208900
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co...	OMIM:243700
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased circulating tot...	OMIM:620210
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Increased circulating IgG level, Splenomegaly, Decr...	OMIM:618495
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:615577
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Reticular Dysgenesis	Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Leukopenia	ORPHA:33355
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Splenomegaly	OMIM:300635
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	ORPHA:508542
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
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia	OMIM:615190
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Decreased circulating antibody level	OMIM:301045
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatosplenomegaly, Splenomegaly, Enlarged platelet dense granule...	OMIM:608233
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	B lymphocytopenia, Severe B lymphocytopenia, Decreased circulating total IgM	ORPHA:83617
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgA level, Anemia, Decreased circulating I...	OMIM:620040
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circulating antibody ...	OMIM:615122
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Chronic decreased circulati...	OMIM:300972
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi...	OMIM:619375
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Osteopetrosis, Autosomal Recessive 7	Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total IgM, Decreased...	OMIM:612301
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com...	ORPHA:79324
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Immunodeficiency 114, Folate-Responsive	Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG level, Thrombocy...	OMIM:620603
Mogs-Cdg	Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytopenia, Hepatosp...	ORPHA:79330
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion...	OMIM:619381
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia	OMIM:616576
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a...	ORPHA:572
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hypersplenism, Decreased circulating IgA level, Splenomegaly, Pancytopenia	OMIM:613385
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,...	ORPHA:91139
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Increased circulating IgE level	OMIM:620532
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Peeling Skin Syndrome 1	Eosinophilia, Increased circulating IgE level	OMIM:270300
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgG level, Increased circulating IgA level, Sp...	OMIM:617388
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc...	OMIM:251260
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Mucopolysaccharidosis-Plus Syndrome	Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Leukopenia, Splenomegaly, T...	OMIM:617303
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:607143
Iga Pemphigus	Eosinophilia, Increased circulating IgA level, Cutaneous abscess, Monoclonal elevation of circula...	ORPHA:555905
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Increased circulating IgG level, Increased circulating IgA level, Paratracheal lymphadeno...	OMIM:615934
Autoinflammatory Disease, Systemic, With Vasculitis	Anemia, Increased circulating interleukin 6 concentration, Increased B cell count, Leukocytosis, ...	OMIM:620376
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:606056
Bloom Syndrome	Decreased circulating total IgM, Acute myeloid leukemia, Abnormal proportion of CD8-positive T ce...	ORPHA:125
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Secondary Intestinal Lymphangiectasia	Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, Decreased ci...	ORPHA:90363
Leishmaniasis	Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Leuko...	ORPHA:507
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level	OMIM:618523
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto...	ORPHA:79124
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple...	ORPHA:449400
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Celiac Disease, Susceptibility To, 1	Thrombocytosis, Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia	OMIM:212750
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Macrophage Activation Syndrome	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu...	ORPHA:158061
Bloom Syndrome	Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased circulating total IgM, Decrea...	OMIM:210900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, B lymphocytopen...	ORPHA:391487
Griscelli Syndrome	Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytope...	ORPHA:381
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia	OMIM:618165
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	OMIM:615952
Roifman Syndrome	Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Icf Syndrome	Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytopenia, Eosin...	ORPHA:90045
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level, Splenomegaly	OMIM:613327
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Hemophagocytic Syndrome Associated With An Infection	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:158048
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly, Microcytic anemia	OMIM:619750
Ataxia-Telangiectasia	Decreased circulating antibody level, Lymphopenia	ORPHA:100
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Decreased specific pneumococcal antibody level, Decreased circulating IgG level, D...	ORPHA:183675
Familial Hemophagocytic Lymphohistiocytosis	Abnormal circulating cytokine concentration, Anemia, Hemophagocytosis, Increased circulating inte...	ORPHA:540
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir...	OMIM:301000
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Thrombocytosis, Decreased circulating IgA level	OMIM:212065
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel...	OMIM:613179
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:243150
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Maternal Uniparental Disomy Of Chromosome 1	Panhypogammaglobulinemia, Pancytopenia	ORPHA:251009
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level, Anemia, Thrombocytopenia	ORPHA:319251
Immunodeficiency 12	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased lym...	OMIM:615468
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	ORPHA:420741
Tempi Syndrome	Increased circulating IgG level, Polycythemia, Increased hematocrit	ORPHA:284227
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Neutropenia, Lymphopenia	OMIM:616395
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulating IgG l...	ORPHA:505248
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Tularemia	Anemia, Increased circulating antibody level, Leukocytosis, Thrombocytopenia, Cutaneous abscess, ...	ORPHA:3392
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre...	ORPHA:297
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level, Granuloma	ORPHA:562639
Hyper-Igd Syndrome	Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat...	OMIM:260920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Thrombocytopeni...	OMIM:304790
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Increased circulating IgE level, Increased circulating IgA level, Le...	OMIM:620565
Dubowitz Syndrome	Aplastic anemia, Decreased circulating IgG level, Acute lymphoblastic leukemia, Decreased circula...	OMIM:223370
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Japanese Encephalitis	Increased circulating IgM level, Neutrophilia, Increased circulating antibody level	ORPHA:79139
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Splenomegaly, Lymphopenia	OMIM:605309
C3 Glomerulopathy	Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentrat...	ORPHA:329918
Multiple Myeloma	Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea...	ORPHA:29073
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Pyoderma Gangrenosum	Increased circulating antibody level, Myeloid leukemia	ORPHA:48104
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	OMIM:617062
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Common Variable Immunodeficiency	Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Autoimmune thro...	ORPHA:1572
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Increased circulating IgE level, Leukocytosis	ORPHA:2902
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul...	OMIM:242900
Primary Biliary Cholangitis	Increased circulating IgA level, Increased circulating IgM level, Splenomegaly	ORPHA:186
Netherton Syndrome	Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level	OMIM:256500
Brucellosis	Lung abscess, Liver abscess, Anemia, Increased circulating IgG level, Leukocytosis, Granuloma, In...	ORPHA:1304
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Neutropenia	ORPHA:47
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG4 leve...	ORPHA:79078
Thymoma	Aplastic anemia, Abnormal lymphocyte physiology, Decreased circulating antibody level, Pure red c...	ORPHA:99867
Coccidioidomycosis	Increased circulating IgG level, Granuloma, Increased circulating IgM level, Abnormality of the s...	ORPHA:228123
Waldenström Macroglobulinemia	Normocytic anemia, Cryoglobulinemia, Splenomegaly, Monoclonal immunoglobulin M proteinemia, Abnor...	ORPHA:33226
Autosomal Agammaglobulinemia	Agammaglobulinemia, Neutropenia	ORPHA:33110
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Anemia, Lymphopenia	ORPHA:935
Prolidase Deficiency	Thrombocytopenia, Splenomegaly, Anemia, Increased circulating antibody level	OMIM:170100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level, Thrombocytosis, Anemia, Iron deficiency anemia	OMIM:226300
Selective Igm Deficiency	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Lymphadenopathy, D...	ORPHA:331235
Ebola Hemorrhagic Fever	Thrombocytopenia, Leukopenia, Increased circulating antibody level, Lymphopenia	ORPHA:319218
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ...	OMIM:618213
Pneumocystosis	Abnormal neutrophil count, Increased circulating antibody level	ORPHA:723
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Lymphopenia	OMIM:617425
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Lymphadenopathy	ORPHA:343
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Lymphadenopathy, Increased circulating IgG level, Increased...	ORPHA:449432
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Neu...	ORPHA:99827
Gaucher Disease	Anemia, Increased circulating antibody level, Pancytopenia, Splenic infarction, Splenic rupture, ...	ORPHA:355
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat...	ORPHA:508533
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227990
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th...	OMIM:614576
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Anemia, Lymphadenopathy, Pancytopenia, Decreased circulating antibody level, Leukocytosis, Bone m...	OMIM:615688
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Aspergillosis	Eosinophilia, Increased circulating IgE level, Neutropenia	ORPHA:1163
Whim Syndrome	Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia,...	ORPHA:51636
Yellow Fever	Increased circulating interleukin 6 concentration, Leukocytosis, Increased circulating IgM level,...	ORPHA:99829
Mannosidosis, Alpha B, Lysosomal	Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly	OMIM:248500
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM, Hepatosplenomegaly, Splenomegaly	ORPHA:171
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Autoimmune Hepatitis	Increased circulating IgG level, Splenomegaly, Increased circulating antibody level	ORPHA:2137
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggregation, Decrea...	ORPHA:79329
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227982
Gaucher Disease Type 1	Anemia, Increased circulating antibody level, Pancytopenia, Splenic infarction, Splenic rupture, ...	ORPHA:77259
Immunodeficiency 58	Decreased circulating antibody level, Decreased specific antibody response to vaccination, Recurr...	OMIM:618131
Cystic Echinococcosis	Increased circulating antibody level, Splenic cyst, Peritoneal abscess, Eosinophilia, Abscess	ORPHA:400
Cowden Syndrome 1	Decreased circulating antibody level, Lymphopenia	OMIM:158350
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Abnormal B cell morphology, T lymphocytopenia	OMIM:618223
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating complemen...	ORPHA:2298
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eosinophilia, Increased circulating IgE level	ORPHA:2314
Vici Syndrome	Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4...	OMIM:242840
Primary Sjögren Syndrome	Decreased circulating complement C3 concentration, Normocytic anemia, Increased circulating antib...	ORPHA:289390
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Decreased circulating Ig...	OMIM:618278
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Leukocytosis, Increased circulating IgD level, Normocytic hypop...	OMIM:610377
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia...	ORPHA:3132
Lead Poisoning	Abnormal T cell morphology, Anemia, Increased circulating IgE level, Imbalanced hemoglobin synthe...	ORPHA:330015
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Viss Syndrome	Increased circulating IgG level, Hypereosinophilia, Increased circulating IgE level, Decreased ci...	OMIM:619472
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat...	OMIM:256040
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Alveolar Echinococcosis	Liver abscess, Anemia, Increased circulating antibody level, Abnormal spleen morphology, Eosinoph...	ORPHA:284
Poems Syndrome	Polycythemia, Splenomegaly, Thrombocytosis, Increased circulating antibody level	ORPHA:2905
Q Fever	Anemia, Increased circulating antibody level, Cryoglobulinemia, Granuloma, Hepatosplenomegaly, Sp...	ORPHA:781
Scleromyxedema	Paraproteinemia	ORPHA:167635
Syndromic Diarrhea	Panhypogammaglobulinemia, Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly,...	ORPHA:84064
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Hennekam Syndrome	Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia	ORPHA:2136
Al Amyloidosis	Howell-Jolly bodies, Anemia, Increased circulating antibody level	ORPHA:85443
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega...	ORPHA:37042
Gaisböck Syndrome	Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin...	ORPHA:90041
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Igg4-Related Kidney Disease	Decreased circulating complement C3 concentration, Lymphadenopathy, Increased circulating IgG1 le...	ORPHA:449395
Gaucher Disease Type 3	Anemia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly	ORPHA:77261
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Increased circulating antibody level, Decreased circulating antibody le...	ORPHA:470
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Thrombocytosis, Decreased circulating antibody level, Splenomegaly	OMIM:222470
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Decreased circulating antibody level, Anemia	ORPHA:79396
Cartilage-Hair Hypoplasia	Decreased circulating antibody level, Anemia, Neutropenia	ORPHA:175
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Anemia, Panhypogammaglobulinemia, Neutropenia	ORPHA:33364
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Thrombocytopenia-Absent Radius Syndrome	Anemia, Decreased circulating antibody level, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly,...	OMIM:274000
Leukocyte Adhesion Deficiency Type Ii	Anemia, Leukocytosis, Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia	ORPHA:99843
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased circulating antibody level, Hepatosplenomegaly, Anemia	ORPHA:247598
Aicardi-Goutieres Syndrome 7	Anemia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemol...	OMIM:615846
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Postinfectious Vasculitis	Cryoglobulinemia, Increased circulating IgA level, Increased circulating antibody level, Abnormal...	ORPHA:48435
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Trichinellosis	Increased circulating IgE level	ORPHA:863
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level, Pancytopenia	OMIM:181000
Marburg Hemorrhagic Fever	Increased circulating antibody level, Neutrophilia in presence of infection, Abnormal lymphocyte ...	ORPHA:99826
Igg4-Related Ophthalmic Disease	Eosinophilia, Increased circulating IgE level, Increased circulating IgG4 level	ORPHA:449563
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,...	ORPHA:91500
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Splenomegaly, Polysplenia	ORPHA:373
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent cutaneous abscess formation, Eosinophilia, Increased circulating IgE level, Cutaneous a...	OMIM:147060
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
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 Cd79b

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 Cd79b.

No publications found that use IMPC mice or data for Cd79b.

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
Cd79b^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cd79b^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cd79b^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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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