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
Recurrent bacterial infections, Chronic decreased circulating total IgG, Antinuclear antibody pos... OMIM:613495
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... 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
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Increased circ... OMIM:619220
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, B-cell lymphoma, Increased circulating... OMIM:618534
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Smooth muscle antibody positivity,... OMIM:610163
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Decreased c... OMIM:619773
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Autoimmunity,... OMIM:137100
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infe... OMIM:609529
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... OMIM:615615
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Candidiasis, Familial, 1
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:601859
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM OMIM:236000
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections OMIM:615206
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Neoplasm, Decreased circulating IgG level, Partial absence of sp... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Lymphoma OMIM:153600
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Increased circulating IgG level, Autoimmunity, Recurrent otit... OMIM:618495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616911
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency 72 With Autoinflammation
Recurrent infections, Increased circulating IgE level, Increased circulating IgG level, Recurrent... OMIM:618982
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 IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Recurrent bacterial infections, ... OMIM:618048
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphoproliferative disorder, Autoimmune thrombocytopenia, ... OMIM:614470
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity, Recurrent infections, Decreased serum complement fact... OMIM:613652
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Recurrent upper respiratory tract infections, Recurrent opportunistic in... ORPHA:277
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, 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
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Lymphop... OMIM:300853
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:603909
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Multiple myeloma, Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Lymphoma ORPHA:209004
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia OMIM:613791
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Chilblain Lupus
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... ORPHA:90280
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Decreased circulating total IgM, Recurrent bacterial infections, Inc... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase... ORPHA:169154
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:276
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,... OMIM:613501
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... OMIM:607271
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Decreased specific pneumococcal antibody level, Recurrent ear... OMIM:615513
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Autoimmunity, Decreased circulating a... ORPHA:169079
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Multiple myeloma, Systemic lupus erythematosus, Rheumatoid ... ORPHA:48377
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Recurrent respiratory i... OMIM:300988
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Anticardiolipin IgG antibody positivity, Absent isohemagglu... OMIM:615559
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch... OMIM:300400
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Antinuclear antibody positivity, Inc... ORPHA:449400
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency, Common Variable, 10
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia... OMIM:615577
Reticular Dysgenesis
Lack of T cell function, Sepsis, Impaired T cell function OMIM:267500
Complement Component C1R/C1S Deficiency
Complement deficiency, Recurrent bronchitis, Autoimmunity OMIM:216950
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Lymphoproliferative Syndrome 3
Hodgkin lymphoma, Lymphoproliferative disorder, Decreased circulating antibody level, Recurrent i... OMIM:618261
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Anal canal squa... ORPHA:217390
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased circulating IgG level OMIM:312863
Immunodeficiency 33
Recurrent bacterial infections, Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... OMIM:613496
Immunodeficiency 27A
Increased circulating IgM level, Rheumatoid factor positive, Increased circulating IgG level OMIM:209950
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Autoimmunity OMIM:617006
Complement Component C1S Deficiency
Systemic lupus erythematosus, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Recurrent respiratory infections OMIM:615767
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Abnormal immunoglobulin level ORPHA:90159
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level, Laryngeal papilloma, Autoimmune... OMIM:617388
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, Decreased ... OMIM:618969
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, B Acute Lymphoblastic Leukemia,... OMIM:619824
Immunodeficiency 36
Decreased circulating IgA level, B-cell lymphoma, Decreased circulating IgG level, Recurrent bact... OMIM:616005
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Recurrent respiratory infections ORPHA:2571
Autoimmune Hepatitis
Increased circulating antibody level, Liver kidney microsome type 1 antibody positivity, Smooth m... ORPHA:2137
Sting-Associated Vasculopathy, Infantile-Onset
Antiphospholipid antibody positivity, Increased circulating IgA level, Rheumatoid factor positive... OMIM:615934
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Non-Hodgkin lymphoma, Basal cell carcinoma, T-cell lymphoma, Bone mar... ORPHA:3261
Lymphoproliferative Syndrome 1
Hodgkin lymphoma, B-cell lymphoma, Decreased circulating IgG level, Lymphoproliferative disorder,... OMIM:613011
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections OMIM:614493
Immunodeficiency 96
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Recurrent tonsillitis, Decreased serum complement C3, Recurrent bac... OMIM:613779
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:331206
Inflammatory Pseudotumor Of The Liver
Neoplasm of the liver, Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear antineutrophil anti... OMIM:618394
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Recurrent pro... ORPHA:572
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:616100
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, C3 nephritic factor positivity, Aut... ORPHA:329918
Unclassified Myelodysplastic Syndrome
Multiple lineage myelodysplasia, Myelodysplasia, Autoimmunity, Bone marrow hypocellularity, Acute... ORPHA:98827
Immunodeficiency 66
Sepsis, Defective T cell proliferation OMIM:618847
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase... ORPHA:169160
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619281
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Immunodeficiency 23
Hodgkin lymphoma, Rheumatoid factor positive, Increased circulating IgG level, Recurrent staphylo... OMIM:615816
Immunodeficiency 105
B-cell lymphoma, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... OMIM:619924
Pgm3-Cdg
Recurrent fungal infections, Increased circulating IgA level, Neutropenia in presence of anti-neu... ORPHA:443811
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Smooth muscle antibody positivity, Increased c... ORPHA:562639
Tempi Syndrome
Hemangioma, Increased circulating IgG level ORPHA:284227
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased circulating anti... OMIM:619846
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Thymoma
Neoplasm, Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Non... ORPHA:99867
Lymphoproliferative Syndrome, X-Linked, 1
Burkitt lymphoma, Decreased circulating IgG level, Lymphoma, Reduced natural killer cell activity... OMIM:308240
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k... OMIM:619374
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Decreased circulating antibody level, Recurrent pneumonia, Recurrent infecti... OMIM:616576
Interstitial Lung Disease 2
Increased circulating antibody level, Alveolar cell carcinoma OMIM:178500
Simple Cryoglobulinemia
B-cell lymphoma, Multiple myeloma, Complement deficiency, Monoclonal elevation of circulating IgA... ORPHA:91139
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... OMIM:617241
Selective Igm Deficiency
Onychomycosis, Multiple myeloma, Recurrent infection of the gastrointestinal tract, Stomach cance... ORPHA:331235
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections OMIM:241600
Pyoderma Gangrenosum
Increased circulating antibody level, Rheumatoid arthritis, Myelodysplasia, Myeloid leukemia ORPHA:48104
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Autoimmunity, Decreased circulating antibody level, Recurrent infections OMIM:617780
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hodgkin lymphoma, Neutropenia in presence of anti-neutropil antibodies, Recurrent upper respirato... OMIM:615952
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:251190
Adult Idiopathic Neutropenia
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... ORPHA:2688
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Decreased circulating IgG level, Antineutrophil antibody positivity, Re... OMIM:301078
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Recurrent otitis media, ... ORPHA:444463
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent St... OMIM:147060
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Systemic lupus erythematosus, Lymphoma, Myelodysplasia, Bone marrow hypocellularity, Acute myeloi... OMIM:616871
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:209920
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Systemic lupus erythematosus, Decreased circulating IgG level, R... ORPHA:183675
Boutonneuse Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:83313
Igg4-Related Thyroid Disease
Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Autoimmunity, Hash... ORPHA:64744
Immunodeficiency 7
Autoimmunity, Recurrent infections OMIM:615387
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Secondary Non-Traumatic Avascular Necrosis
Neoplasm, Systemic lupus erythematosus, Rheumatoid arthritis, Hematological neoplasm, Autoimmunity ORPHA:399180
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Complement deficiency, Increased circulating IgG level, Inc... ORPHA:449432
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Lymphoma, Autoimmunity, Sarcoma ORPHA:454
Thymic Tumor
Neuroendocrine neoplasm, Neoplasm of the thymus, Autoimmunity, Dysgammaglobulinemia ORPHA:100100
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgA level, Increased circulati... ORPHA:74
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619752
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Recurrent respiratory infections, Recurrent otitis media OMIM:618523
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Caffey Disease
Increased circulating antibody level ORPHA:1310
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619510
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphoproliferative disorder, D... OMIM:614700
Insulin-Resistance Syndrome Type B
Hodgkin lymphoma, Systemic lupus erythematosus, Increased circulating IgA level, Decreased serum ... ORPHA:2298
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Enteroviral dermatomyositis syn... OMIM:300755
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Recurrent fungal infections, B-cell lymphoma, Absent specific an... OMIM:102700
Schnitzler Syndrome
Increased circulating IgM level, Lymphoma ORPHA:37748
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620040
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Linear Iga Dermatosis
Bladder neoplasm, Autoimmunity, Renal neoplasm ORPHA:46488
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:619802
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmune antibody pos... ORPHA:555905
Prolidase Deficiency
Increased circulating antibody level, Systemic lupus erythematosus, Recurrent pneumonia, Recurren... OMIM:170100
Immunodeficiency 17
Recurrent gastroenteritis, Chronic oral candidiasis, Chronic decreased cirulating IgG2, Recurrent... OMIM:615607
Thymic Aplasia
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Recurren... ORPHA:83471
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Recurrent infections OMIM:256500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... OMIM:600802
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
X-Linked Agammaglobulinemia
Neoplasm, Sepsis, Autoimmunity, Recurrent pneumonia, Agammaglobulinemia, Recurrent cutaneous absc... ORPHA:47
Encephalitis Lethargica
Increased circulating antibody level, Recurrent viral infections, Autoimmunity ORPHA:83600
Pneumocystosis
Increased circulating antibody level, Neoplasm, Chronic oral candidiasis ORPHA:723
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Recurrent infections OMIM:608809
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Autoimmunity ORPHA:2902
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Decreased serum complement C3, Complement deficiency, Decreased... ORPHA:449395
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent infections, Recurren... ORPHA:1493
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Antinuclear antibody positivity, Increased circulating IgG4 leve... ORPHA:79078
Primary Biliary Cholangitis
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Hepatocellular carci... ORPHA:186
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... OMIM:601495
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ... ORPHA:29073
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgA level... OMIM:619652
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Vici Syndrome
Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec... OMIM:242840
Bloom Syndrome
Recurrent gastroenteritis, Neoplasm of the colon, Decreased circulating IgA level, Esophageal neo... ORPHA:125
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersensitivity, Recurrent pneu... OMIM:242700
Igg4-Related Ophthalmic Disease
Antinuclear antibody positivity, Non-Hodgkin lymphoma, Neoplasm of the lung, Lymphoma, Increased ... ORPHA:449563
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Increased circulating IgE level, Autoimmune... OMIM:304790
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Recurrent infections, Recu... ORPHA:634
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Autoim... ORPHA:231154
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Burkitt lymphoma, Decreased circulating IgG level, Increased cir... ORPHA:2442
Purine Nucleoside Phosphorylase Deficiency
Neoplasm, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Recurrent infe... ORPHA:760
Immunodeficiency 58
Onychomycosis, Recurrent upper respiratory tract infections, Helicobacter pylori infection, Decre... OMIM:618131
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmunity, Decreased circulating antibody level, T-cell lymphoma, Autoimmune hemolytic anemia,... OMIM:243150
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Recurrent infections, Neoplasm of the skin OMIM:616395
Ataxia-Telangiectasia
Decreased circulating IgA level, Hodgkin lymphoma, Decreased circulating IgG level, Non-Hodgkin l... OMIM:208900
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Neoplasm, Recurrent fungal infections, Sepsis, Recurrent bact... ORPHA:169090
Rift Valley Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:319251
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, B-cell lymphoma, Decreased circulating total IgM, Lymphoma, Decr... ORPHA:90363
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:90362
Leishmaniasis
Increased circulating antibody level ORPHA:507
Q Fever
Increased circulating antibody level, Antiphospholipid antibody positivity, Anticardiolipin IgG a... ORPHA:781
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Sepsis, Recurrent upper respiratory tract infections, Panhypogam... OMIM:602450
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
Lassa Fever
Sepsis, Increased circulating IgM level ORPHA:99824
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Lymphoma, Recurrent infections, Recurrent respiratory infections ORPHA:2314
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgM level, Increased circulating IgG l... ORPHA:297
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Neutropenia in presence of anti-neutropil antibodies, Sepsis, Insulin ... ORPHA:37042
Pemphigus Vulgaris
Autoimmunity, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Tularemia
Increased circulating antibody level ORPHA:3392
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Postinfectious Vasculitis
Recurrent candida infections, Increased circulating antibody level, Recurrent streptococcus pneum... ORPHA:48435
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612301
Autoimmune Polyendocrinopathy Type 4
Thymoma, Antiphospholipid antibody positivity, Rheumatoid arthritis, Autoimmune thrombocytopenia,... ORPHA:227990
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmun... ORPHA:90033
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Complement deficiency ORPHA:449427
Immunodeficiency 22
Autoimmunity, Recurrent respiratory infections OMIM:615758
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level ORPHA:86816
Ebola Hemorrhagic Fever
Increased circulating antibody level, Sepsis ORPHA:319218
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Autoimmune Polyendocrinopathy Type 3
Thymoma, Antiphospholipid antibody positivity, Rheumatoid arthritis, Autoimmune thrombocytopenia,... ORPHA:227982
Schimke Immuno-Osseous Dysplasia
Lymphoproliferative disorder, Abnormal lymphocyte physiology, Impaired T cell function, Non-Hodgk... ORPHA:1830
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Pemphigus Erythematosus
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... ORPHA:79480
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections ORPHA:30
Hyper-Igd Syndrome
Chronic oral candidiasis, Increased circulating IgA level, Renal angiomyolipoma, Increased circul... OMIM:260920
Trichothiodystrophy 1, Photosensitive
Squamous cell carcinoma, Basal cell carcinoma, Decreased circulating IgG level, Recurrent infections OMIM:601675
Immunodeficiency 47
Decreased circulating total IgA, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:300972
Brucellosis
Increased circulating IgM level, Rheumatoid factor positive, Increased circulating IgG level ORPHA:1304
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Recurrent infect... OMIM:614576
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:210900
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Recurrent infections OMIM:617591
Scleromyxedema
Multiple myeloma, Paraproteinemia ORPHA:167635
Coccidioidomycosis
Increased circulating IgM level, Increased circulating IgG level ORPHA:228123
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Sepsis, Increased circulating IgM level, Recurrent pneumon... OMIM:617303
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Aspergillosis
Hematological neoplasm, Increased circulating IgE level ORPHA:1163
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:420741
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Impaired T cell function OMIM:201100
Mgat2-Cdg
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper and lower respiratory ... ORPHA:79329
Mogs-Cdg
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:79330
Poems Syndrome
Increased circulating antibody level, Hemangioma, Lymphoproliferative disorder ORPHA:2905
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Capillary hemangioma, Decreased circul... ORPHA:508533
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Neuroblastoma, Lymphoma, Recurr... OMIM:223370
Orotic Aciduria
Impaired T cell function OMIM:258900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Decreased circulating IgG level, Sepsis, Increased circulating IgM lev... ORPHA:505248
Crimean-Congo Hemorrhagic Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:99827
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Mevalonic Aciduria
Increased circulating IgD level, Recurrent infections OMIM:610377
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity ORPHA:330015
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Impaired neutrophil chemot... ORPHA:3132
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Numerous nevi, Impaired T cell function OMIM:176690
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620005
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Recurrent infections, Recurrent respiratory infections OMIM:618278
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Gaucher Disease Type 3
Increased circulating antibody level, Recurrent respiratory infections ORPHA:77261
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, B-cell lymphoma, Decreased circulating... OMIM:619381
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Adenocarcinoma of the large intestine, Hepatocellular carcinoma, Polyclonal e... ORPHA:171
Lysinuric Protein Intolerance
Increased circulating antibody level, Complement deficiency, Recurrent bacterial infections, Abno... ORPHA:470
Japanese Encephalitis
Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:619472
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Primary Sjögren Syndrome
Increased circulating antibody level, Decreased serum complement C3, Complement deficiency, Decre... ORPHA:289390
Cysticercosis
Increased circulating antibody level ORPHA:1560
Trichinellosis
Increased circulating IgE level ORPHA:863
Aicardi-Goutieres Syndrome 7
Recurrent lower respiratory tract infections, Increased circulating antibody level OMIM:615846
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Simpson-Golabi-Behmel Syndrome
Neoplasm, Neuroblastoma, Hepatoblastoma, Nephroblastoma, Increased circulating IgE level 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
Marburg Hemorrhagic Fever
Increased circulating antibody level ORPHA:99826
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level ORPHA:99829

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 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Btn2a2 Regulates ILC2-T Cell Cross Talk in Type 2 Immune Responses. Frontiers in immunology (January 2022) Btn2a2em1(IMPC)Wtsi PMC8821520
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