Gene Summary

Name:
butyrophilin, subfamily 2, member A2
Synonyms:
N/A

IMPC Data Collections

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.

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Viewing: all phenotypes

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.

Legacy Phenotype Associated Images

Human diseases caused by Btn2a2 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 Btn2a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Antinuclear antibody p... OMIM:613495
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, D... OMIM:615897
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunoerythromyeloid Hypoplasia
Lymphoproliferative disorder, Decreased circulating IgG level OMIM:242880
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurr... OMIM:619220
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Decreased circulating IgG level, Recurrent bacterial infections OMIM:242870
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Increased ci... OMIM:618534
Immunodeficiency 25
Recurrent herpes, Recurrent pneumonia, Increased circulating IgM level, Increased circulating IgE... OMIM:610163
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent infections, Decreased circulating IgA level, Recurrent respiratory infect... OMIM:137100
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Autoim... OMIM:618495
Immunoglobulin A Deficiency 2
Autoimmunity, Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level,... OMIM:609529
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Platelet antibody positive, Antineutrophil antibody positivity, ... OMIM:601859
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM OMIM:236000
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections OMIM:615206
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia, Lymphoma OMIM:153600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency 72 With Autoinflammation
Recurrent infections, Recurrent otitis media, Increased circulating IgG level, Increased circulat... OMIM:618982
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Reduced isohemagglutinin le... OMIM:614699
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent bacterial infections, Recurrent p... OMIM:613500
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus, Decreased serum complement C8 OMIM:613790
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Chronic oral candidiasis, Recurrent gastroenteritis, Autoimmu... ORPHA:275
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmunity, Increased circulating an... OMIM:614470
C1Q Deficiency
Autoimmunity, Recurrent infections, Systemic lupus erythematosus, Decreased serum complement fact... OMIM:613652
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Anti-thyroid peroxidase antibody positivity, Increased circul... ORPHA:277
Insulin Autoimmune Syndrome
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti... ORPHA:411593
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Agammaglobulinemia, Recurrent respiratory infections OMIM:615214
Myeloma, Multiple
Multiple myeloma, Paraproteinemia OMIM:254500
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Platelet antibody positive, Antineutrophil antibody positivity, ... OMIM:603909
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Decreased specif... OMIM:300853
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Multiple myeloma, Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia, Lymphoma ORPHA:209004
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia OMIM:613791
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating IgE level, Recurrent upper respiratory tract infections, Recurrent otitis m... OMIM:618944
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Verrucae, Rec... OMIM:193670
Chilblain Lupus
Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid factor positive, C... ORPHA:90280
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Autoimmune thrombocytopenia, Recurrent upper respiratory tract i... ORPHA:169154
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Neutropenia in presence of ant... OMIM:607594
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:300310
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Recurrent ot... OMIM:615577
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Recurrent sinopulmonary infect... OMIM:615513
Agammaglobulinemia 8, Autosomal Dominant
Recurrent infections, Recurrent otitis media, Agammaglobulinemia OMIM:616941
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infe... OMIM:615559
Subcorneal Pustular Dermatosis
Multiple myeloma, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody leve... ORPHA:48377
Cernunnos-Xlf Deficiency
Autoimmunity, Decreased circulating antibody level, Recurrent viral infections, Recurrent bacteri... ORPHA:169079
Immunodeficiency 50
Decreased circulating antibody level, Recurrent urinary tract infections, Recurrent respiratory i... OMIM:300988
Igg4-Related Aortitis
Increased circulating IgE level, Autoimmunity, Increased circulating antibody level, Increased ci... ORPHA:449400
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level OMIM:300636
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Recurrent ... OMIM:617765
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis, Complement deficiency OMIM:216950
Severe Combined Immunodeficiency, X-Linked
Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating IgE, Agammaglobuline... OMIM:300400
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased circulating IgG level OMIM:312863
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, D... OMIM:618261
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, Increased circulating IgE level, Recurrent bacterial skin infectio... ORPHA:217390
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Complete or near-complete absence of specific antibody response to t... OMIM:613496
Immunodeficiency With Hyper-Igm, Type 4
Myelodysplasia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoim... OMIM:608184
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Sepsis OMIM:267500
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Immunodeficiency 27A
Rheumatoid factor positive, Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Recurrent respiratory infections OMIM:615767
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level OMIM:617006
Immunodeficiency 36
Autoimmunity, Decreased circulating antibody level, Chronic lymphatic leukemia, B-cell lymphoma, ... OMIM:616005
Complement Component C1S Deficiency
Abnormality of complement system, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Candidiasis, Familial, 2
Increased circulating IgE level, Onychomycosis, Chronic oral candidiasis OMIM:212050
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Antinuclear antibody positivity ORPHA:90159
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgG level, Laryngeal papilloma, Increased circ... OMIM:617388
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Recurrent ... OMIM:612692
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:613502
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Recurrent respiratory infections ORPHA:2571
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating an... OMIM:613011
Immunodeficiency 60
Decreased circulating IgE, Recurrent sinopulmonary infections, Perinuclear antineutrophil antibod... OMIM:618394
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Rheumatoid factor positive, Increased circulating IgG level, Re... OMIM:615934
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Recurrent en... ORPHA:331206
Autoimmune Hepatitis
Antineutrophil antibody positivity, Anti-liver cytosolic antigen type 1 antibody positivity, Incr... ORPHA:2137
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
Wiskott-Aldrich Syndrome 2
Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Abnormal serum interleukin level, Decreased specific anti-polysaccharide an... ORPHA:3261
Immunodeficiency 70
Decreased circulating antibody level, Recurrent sinusitis, Decreased circulating total IgG, Decre... OMIM:618969
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Autoimmune thrombocytopenia, Recurrent Staphylococ... ORPHA:572
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections OMIM:202700
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:616100
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Neoplasm of the liver ORPHA:90003
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Complement Component 3 Deficiency, Autosomal Recessive
Decreased serum complement C3, Systemic lupus erythematosus, Recurrent bacterial infections OMIM:613779
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections, ... OMIM:300291
C3 Glomerulopathy
Autoimmunity, Decreased serum complement C4, Paraproteinemia, Recurrent infections, Decreased ser... ORPHA:329918
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Autoimmunity, Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marro... ORPHA:98827
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Decreased circulating antibody level, Burkitt lymphoma, Lymphoma... OMIM:308240
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased circulating IgA level, Decreased... OMIM:616452
Immunodeficiency 14B, Autosomal Recessive
Recurrent sinusitis, Decreased circulating IgA level, Recurrent pneumonia, Decreased circulating ... OMIM:619281
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Recurrent staphylococcal infect... OMIM:615816
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Recurrent infections OMIM:618048
Pgm3-Cdg
Recurrent pneumonia, Increased circulating IgE level, Recurrent fungal infections, Autoimmunity, ... ORPHA:443811
Immunodeficiency 66
Sepsis, Defective T cell proliferation OMIM:618847
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgM level, Anti-liver cytosolic antigen type 1 antibody positivity, Antimit... ORPHA:562639
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Tempi Syndrome
Hemangioma, Increased circulating IgG level ORPHA:284227
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent... OMIM:616576
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Selective Igm Deficiency
Non-Hodgkin lymphoma, Decreased specific antibody response to vaccination, Recurrent urinary trac... ORPHA:331235
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Recurrent infections, Increased circulating IgE level OMIM:618985
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections OMIM:241600
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Immunodeficiency 81
Autoimmune hemolytic anemia, Impaired neutrophil chemotaxis, Impaired collagen-induced platelet a... OMIM:619374
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:251190
Pulmonary Fibrosis, Idiopathic
Alveolar cell carcinoma, Increased circulating antibody level OMIM:178500
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacterial infections OMIM:616873
Kimura Disease
Increased circulating IgE level ORPHA:482
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Increased circula... OMIM:617241
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmunity, Decrease... OMIM:615952
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent fungal infections, Helicobacter pylori infection, Recu... ORPHA:2688
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis, Myelodysplasia ORPHA:48104
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Decreased circulating antibody level, Recurrent infections, Recurrent pneumonia OMIM:617780
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Recurrent fungal infections, Recurrent Staphylococcus aureus inf... OMIM:147060
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Autoimmune thrombocytopenia, Recurrent upper respiratory trac... OMIM:613179
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmun... ORPHA:444463
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Systemic lupus erythematosus, Lymphoma, Acute myeloid leukemia, Bone marrow hypoc... OMIM:616871
Immunodeficiency 37
Decreased circulating antibody level, Recurrent infections OMIM:616098
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recu... OMIM:209920
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity, Recurrent infections OMIM:615387
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Acquired Ichthyosis
Multiple myeloma, Autoimmunity, Lymphoma, Neoplasm, Sarcoma ORPHA:454
Secondary Non-Traumatic Avascular Necrosis
Systemic lupus erythematosus, Autoimmunity, Rheumatoid arthritis, Neoplasm, Hematological neoplasm ORPHA:399180
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Recurrent fungal infections, Autoimmune thrombocytopenia, Autoim... OMIM:102700
Thymic Tumor
Autoimmunity, Neuroendocrine neoplasm, Dysgammaglobulinemia, Neoplasm of the thymus ORPHA:100100
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Chronic oral candidiasis, Partial IgA deficiency, Lack of T c... ORPHA:35078
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Recurrent respiratory infections OMIM:618042
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Autoimmunity, Increased circulating antibody level, Increased ci... ORPHA:449432
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased... OMIM:614700
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgM level, Increased circulating specific ... ORPHA:74
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Rec... OMIM:618986
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Insulin-Resistance Syndrome Type B
Multiple myeloma, Systemic lupus erythematosus, Autoimmunity, Decreased serum complement factor B... ORPHA:2298
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Recurrent otitis media, Increased circulating IgE level, Recurrent respiratory infections OMIM:618523
Caffey Disease
Increased circulating antibody level ORPHA:1310
Secondary Intestinal Lymphangiectasia
Autoimmunity, Decreased circulating antibody level, Neoplasm ORPHA:90363
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Schnitzler Syndrome
Increased circulating IgM level, Lymphoma ORPHA:37748
Linear Iga Dermatosis
Autoimmunity, Renal neoplasm, Bladder neoplasm ORPHA:46488
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Recurrent fungal infections, Decreased specific anti-polysacchar... OMIM:606367
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Iga Pemphigus
Increased circulating IgA level, Autoimmune antibody positivity, Monoclonal elevation of circulat... ORPHA:555905
Prolidase Deficiency
Increased circulating antibody level, Systemic lupus erythematosus, Recurrent infections, Recurre... OMIM:170100
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Decreased T cell activation, Inc... OMIM:618213
Netherton Syndrome
Recurrent infections, Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent otitis media, Panhypoga... OMIM:600802
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
X-Linked Agammaglobulinemia
Autoimmunity, Neoplasm, Recurrent cutaneous abscess formation, Agammaglobulinemia, Recurrent pneu... ORPHA:47
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Bloom Syndrome
Recurrent upper respiratory tract infections, Lymphoma, Decreased circulating IgA level, Decrease... OMIM:210900
Vici Syndrome
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgG2 level, Recurren... ORPHA:1493
Vici Syndrome
Cutaneous anergy, Recurrent fungal infections, Decreased circulating IgG2 level, Recurrent viral ... OMIM:242840
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Increased circulating IgE level, Decreased serum complement C4,... ORPHA:449395
Pneumocystosis
Neoplasm, Increased circulating antibody level, Chronic oral candidiasis ORPHA:723
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Recurrent infections OMIM:608809
Bloom Syndrome
Recurrent urinary tract infections, Neoplasm of the breast, Neoplasm, Malignant genitourinary tra... ORPHA:125
Encephalitis Lethargica
Autoimmunity, Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Ataxia-Telangiectasia
Defective B cell differentiation, Recurrent bronchitis, Non-Hodgkin lymphoma, Decreased circulati... OMIM:208900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Primary Biliary Cholangitis
Increased circulating IgM level, Recurrent fungal infections, Autoimmunity, Hepatocellular carcin... ORPHA:186
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgG level, Increased circulating IgA ... ORPHA:29073
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Anti-glutamic acid decarboxylase antibody positivity, Autoimmune... OMIM:304790
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Igg4-Related Ophthalmic Disease
Non-Hodgkin lymphoma, Increased circulating IgE level, Increased circulating IgG4 level, Lymphoma... ORPHA:449563
Wiskott-Aldrich Syndrome
Recurrent herpes, Recurrent pneumonia, Increased circulating IgE level, Decreased specific anti-p... OMIM:301000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Autoim... ORPHA:231154
Felty Syndrome
Autoimmunity, Recurrent urinary tract infections, Lymphoma, Recurrent infections, Recurrent pneum... ORPHA:47612
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic ane... ORPHA:760
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Increased circulating IgM level, Autoimmunity, Decrease... ORPHA:2442
Netherton Syndrome
Recurrent infections, Decreased circulating antibody level, Increased circulating IgE level, Recu... ORPHA:634
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersensit... OMIM:242700
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating total IgM, Decreased... ORPHA:221139
Immunodeficiency 58
Recurrent upper respiratory tract infections, Helicobacter pylori infection, Decreased specific a... OMIM:618131
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Autoimmunity, Recurrent viral infections, Neoplasm, Recurrent mycoba... ORPHA:169090
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Recurrent... OMIM:600903
Autosomal Dominant Hyper-Ige Syndrome
Recurrent infections, Increased circulating IgE level, Recurrent respiratory infections, Lymphoma ORPHA:2314
Leishmaniasis
Increased circulating antibody level ORPHA:507
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Lymphoma, Systemic lupus erythematosus, Autoimmunity ORPHA:90036
Pemphigus Vulgaris
Autoimmunity, Recurrent cutaneous abscess formation, Recurrent infections ORPHA:704
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Q Fever
Cryoglobulinemia, Anticardiolipin IgG antibody positivity, Increased circulating antibody level, ... ORPHA:781
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Autoimmune thromboc... ORPHA:37042
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, Rheumatoid arthr... ORPHA:227990
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Tularemia
Increased circulating antibody level ORPHA:3392
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Decreased circulating IgG level, Recurrent infections, Squamous cell carcinoma OMIM:601675
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Autoimmune Polyendocrinopathy Type 3
Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, Rheumatoid arthr... ORPHA:227982
Proteasome-Associated Autoinflammatory Syndrome 1
Increased serum interferon-gamma level, Recurrent upper respiratory tract infections, Increased c... OMIM:256040
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal serum interleukin level, Increased serum interferon-gamma level, Autoimmunity, Rheumatoi... ORPHA:85410
Immunodeficiency 22
Autoimmunity, Recurrent respiratory infections OMIM:615758
Autoimmune Hemolytic Anemia, Warm Type
Lymphoproliferative disorder, Systemic lupus erythematosus, Autoimmune hemolytic anemia, Autoimmu... ORPHA:90033
Igg4-Related Pachymeningitis
Complement deficiency, Increased circulating IgG4 level ORPHA:449427
Bullous Pemphigoid
Autoimmunity, Recurrent infections ORPHA:703
Congenital Analbuminemia
Increased circulating antibody level, Recurrent lower respiratory tract infections ORPHA:86816
Schimke Immuno-Osseous Dysplasia
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Autoimmunity, Impaired T cell function, Abnor... ORPHA:1830
Hyper-Igd Syndrome
Chronic oral candidiasis, Renal angiomyolipoma, Recurrent infections, Increased circulating IgA l... OMIM:260920
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Increased circulating IgA level OMIM:617099
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:612301
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections ORPHA:30
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Recurrent infections OMIM:617591
Riddle Syndrome
Recurrent sinusitis, Recurrent viral infections, Decreased circulating IgA level, Recurrent pneum... ORPHA:420741
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Recurrent bronchopulmonary infections, Recurrent pneumonia, Seps... OMIM:617303
Brucellosis
Rheumatoid factor positive, Increased circulating IgG level, Increased circulating IgM level ORPHA:1304
Scleromyxedema
Multiple myeloma, Paraproteinemia ORPHA:167635
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid arthritis, Neo... ORPHA:100026
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Recurrent infections, Decreased specific anti-polysaccharide antibody l... OMIM:614576
Dubowitz Syndrome
Neuroblastoma, Lymphoma, Recurrent infections, Decreased circulating IgA level, Acute lymphoblast... OMIM:223370
Aspergillosis
Hematological neoplasm, Increased circulating IgE level ORPHA:1163
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Poems Syndrome
Increased circulating antibody level, Hemangioma, Lymphoproliferative disorder ORPHA:2905
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Recurrent gastroenteritis, Sepsis, Decreased circulating IgG lev... ORPHA:505248
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Orotic Aciduria
Impaired T cell function OMIM:258900
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Impaired neutrophil chemot... ORPHA:3132
Mevalonic Aciduria
Recurrent infections, Increased circulating IgD level OMIM:610377
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections, Numerous nevi OMIM:176690
Gaucher Disease Type 3
Increased circulating antibody level, Recurrent respiratory infections ORPHA:77261
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Lead Poisoning
Abnormality of humoral immunity, Increased circulating IgE level ORPHA:330015
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Autoimmunity, Hepatocellular carcinoma, Cholangiocarcinoma, Neoplasm... ORPHA:171
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Lysinuric Protein Intolerance
Decreased circulating antibody level, Increased circulating antibody level, Abnormality of humora... ORPHA:470
Japanese Encephalitis
Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Cysticercosis
Increased circulating antibody level ORPHA:1560
Primary Sjögren Syndrome
Lymphoproliferative disorder, Cryoglobulinemia, Decreased circulating antibody level, Increased c... ORPHA:289390
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Trichinellosis
Increased circulating IgE level ORPHA:863
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Neuroblastoma, Neoplasm, Nephroblastoma, Hepatoblastoma ORPHA:373
Gaucher Disease
Increased circulating antibody level ORPHA:355
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Decreased circulating IgG level, Recurrent infections ORPHA:500150

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 Btn2a2

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 Btn2a2.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
RANKL-Induced Btn2a2 - A T Cell Immunomodulatory Molecule - During Osteoclast Differentiation Fine-Tunes Bone Resorption. Frontiers in endocrinology (August 2021) Btn2a2em1(IMPC)Wtsi PMC8371446
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Btn2a2em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Btn2a2em1(IMPC)Wtsi