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
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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 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Antinuclear antibody positivity, Recurrent respiratory infections... OMIM:613495
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Lymphoproliferative disorder OMIM:242880
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, Recurrent lower respirator... OMIM:619220
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level, Autoimmunity, Recurrent infect... OMIM:137100
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... OMIM:618534
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity, Recurrent infection of the gastrointestinal tract,... OMIM:609529
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Recurrent viral upper respiratory tr... OMIM:619773
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased circulating antibody level OMIM:235900
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... OMIM:601859
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Autoimmunity, Autoimmune hemolytic an... OMIM:618495
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Lymphoma, Recurre... OMIM:240500
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Lymphoma OMIM:153600
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Increased circulating IgG level, Recurrent infections, Recurrent... OMIM:618982
Immunodeficiency 62
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c... OMIM:618459
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Chronic mucocutaneous candid... ORPHA:98813
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent infections, Lymphoma, Recurrent respiratory infections, Autoimmunity, Increased circula... OMIM:614470
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glycoprotein I Ig... OMIM:618048
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
C1Q Deficiency 1
Decreased circulating complement factor I concentration, Recurrent infections, Autoimmunity, Syst... OMIM:613652
Immunodeficiency 18
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente... OMIM:615615
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating... ORPHA:411593
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Myeloma, Multiple
Paraproteinemia, Multiple myeloma OMIM:254500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Lymphoma, Recu... OMIM:300853
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Verrucae, Recurrent viral in... ORPHA:275
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... OMIM:603909
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De... OMIM:614420
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni... ORPHA:277
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob... OMIM:619707
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Verrucae, Recurren... OMIM:193670
Chilblain Lupus
Systemic lupus erythematosus, Chronic myelomonocytic leukemia, Increased circulating antibody lev... ORPHA:90280
Masp2 Deficiency
Reduced circulating complement concentration, Recurrent pneumonia, Systemic lupus erythematosus OMIM:613791
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Sepsi... ORPHA:276
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ... ORPHA:169154
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Increased circulat... OMIM:618944
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Recurrent sinop... OMIM:615513
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Increased circulating IgE level, Recurre... OMIM:243700
Immunodeficiency 50
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent urinary tract i... OMIM:300988
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob... OMIM:300400
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Fre... OMIM:615577
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:607594
Autoimmune Lymphoproliferative Syndrome, Type Iii
Anticardiolipin IgG antibody positivity, Recurrent infections, Recurrent upper respiratory tract ... OMIM:615559
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, H... OMIM:618261
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Complement Component C1R/C1S Deficiency
Reduced circulating complement concentration, Autoimmunity, Recurrent bronchitis OMIM:216950
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive OMIM:209950
Combined Immunodeficiency Due To Dock8 Deficiency
Verrucae, Recurrent viral infections, Recurrent candida infections, Increased circulating IgE lev... ORPHA:217390
Immunodeficiency 11A
Agammaglobulinemia, Recurrent respiratory infections, Decreased circulating antibody level, Reduc... OMIM:615206
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Myelodysplasia, Recurrent infection of the gastroin... OMIM:608184
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect... OMIM:614102
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Recurrent bacterial infections OMIM:300636
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Autoimmunity OMIM:617006
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections,... ORPHA:169079
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Lymphoma, Recurrent otitis media, Autoimmunity, Decreased circulating anti... ORPHA:397596
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Systemic lupus erythematosus OMIM:613783
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Antinuclear antibody positivity ORPHA:90159
Autoinflammation With Arthritis And Dyskeratosis
Laryngeal papilloma, Autoimmune hemolytic anemia, Antinuclear antibody positivity, Increased circ... OMIM:617388
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... OMIM:613496
Immunodeficiency 102
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Verrucae, Increase... OMIM:301082
Autoimmune Hepatitis
Antineutrophil antibody positivity, Anti-liver cytosolic antigen type 1 antibody positivity, Incr... ORPHA:2137
Immunodeficiency 70
Verrucae, Decreased circulating total IgG, Recurrent sinusitis, Decreased circulating total IgM, ... OMIM:618969
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 96
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Defecti... OMIM:619774
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Systemic lupus erythematosus, Increased circulating IgE level, Increased ci... ORPHA:3261
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Recurrent respiratory infections OMIM:615767
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:616005
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Cytoplasmic antineutrophil antibody positivity, Antiphospholipi... OMIM:615934
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency 112
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, D... OMIM:620449
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation OMIM:614493
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Acute monocytic leukemia, Increased circulating antibody level OMIM:202700
Lymphoproliferative Syndrome 1
Recurrent infections, Decreased circulating IgG level, Autoimmunity, Autoimmune hemolytic anemia,... OMIM:613011
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Verrucae, Recurrent viral infections, Partial absence of specifi... OMIM:620632
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:331206
Inflammatory Pseudotumor Of The Liver
Neoplasm of the liver, Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Immunodeficiency 15B
Decreased lymphocyte proliferation in response to mitogen, Agammaglobulinemia, Recurrent infectio... OMIM:615592
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Recurrent bacterial inf... OMIM:613779
Immunodeficiency 23
Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf... OMIM:615816
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinopulmonary infecti... OMIM:618394
C3 Glomerulopathy
Paraproteinemia, Autoimmunity, Decreased circulating complement C4 concentration, Recurrent infec... ORPHA:329918
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:572
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, B-cell lymphoma, Recurrent viral infections, Recurrent respirato... OMIM:620532
Immunodeficiency 66
Defective T cell proliferation, Sepsis OMIM:618847
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Acute lymphoblastic leukemia, Recurrent fungal infections, Recurrent ... OMIM:616873
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Decreased ... OMIM:616100
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Autoimmunity, Myelodysplasia, Acute myeloid leukemia, Multiple linea... ORPHA:98827
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Recurrent infections, Panhypogammaglobulinemia OMIM:615214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent candida ... OMIM:614069
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Pgm3-Cdg
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent viral infections, Sepsis, Lymphoma, R... ORPHA:443811
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Recurrent ... OMIM:619281
Immunodeficiency 105
Decreased circulating IgG level, Decreased circulating IgA level, B-cell lymphoma, Decreased circ... OMIM:619924
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:169160
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Anti-liver cytosolic antigen type 1 antibody positivity, Antinuclear antibody positivity, Anti-sm... ORPHA:562639
Tempi Syndrome
Increased circulating IgG level, Hemangioma ORPHA:284227
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammaglobulinemia, Increased c... OMIM:300291
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Increased circulating antibody level OMIM:615285
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Lymphoma, ... ORPHA:436159
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level, Recurrent sinopulmonary ... OMIM:619846
Interstitial Lung Disease 2
Alveolar cell carcinoma, Increased circulating antibody level OMIM:178500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Thymoma
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... ORPHA:99867
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent sinopulmonary in... OMIM:616576
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 81
Autoimmune hemolytic anemia, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell prol... OMIM:619374
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Onychomycosis, Chronic oral candidiasis OMIM:212050
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Sepsis, Impaired memory B cell generation, Abnormal circulating ... OMIM:308230
Selective Igm Deficiency
Rheumatoid arthritis, Systemic lupus erythematosus, Stomach cancer, Recurrent bronchitis, Autoimm... ORPHA:331235
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... ORPHA:2688
Pyoderma Gangrenosum
Rheumatoid arthritis, Myelodysplasia, Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Kimura Disease
Increased circulating IgE level ORPHA:482
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Lymphoma, Decreased circulating antibody level, Dysgammaglobulin... OMIM:308240
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Refractory anemia with ring... ORPHA:318
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Antineutrophil antibody positivity,... OMIM:301078
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Lymphoma, Systemic lupus erythematosus, Acute myeloid leukemia, Myel... OMIM:616871
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis OMIM:616069
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:620210
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hashimoto... ORPHA:64744
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Rheumatoid arthr... ORPHA:183675
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Autoimmunity,... OMIM:615952
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ... ORPHA:74
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ... OMIM:613179
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Recurrent otitis media, Recurrent respiratory infections OMIM:618523
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Decreased T cell activation, Defective T cell proliferation, Inc... OMIM:618213
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent infections, Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Lymphoma, Rec... OMIM:614700
Caffey Disease
Increased circulating antibody level ORPHA:1310
Immunodeficiency 32B
Recurrent infections, Impaired oxidative burst, Abnormal circulating IgG level, Recurrent respira... OMIM:226990
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Neoplasm, Autoimmunity, Hematological neoplasm ORPHA:399180
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent infections, Decreased circulating antibody level, Recurrent pneumonia, Autoimmunity OMIM:617780
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:619510
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Lymphoma, Systemic lupus erythematosus, ... ORPHA:2298
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Increas... OMIM:618282
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Decreased lymphocyte proliferation ... OMIM:618986
Prolidase Deficiency
Recurrent infections, Systemic lupus erythematosus, Recurrent pneumonia, Increased circulating an... OMIM:170100
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrom... OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Decreased circulating IgG level, Recurrent lower respiratory tra... OMIM:620603
Immunodeficiency 17
Chronic decreased circulating IgG2, Recurrent otitis media, Autoimmune hemolytic anemia, Recurren... OMIM:615607
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmune antibody pos... ORPHA:555905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir... OMIM:102700
Schnitzler Syndrome
Increased circulating IgM level, Lymphoma ORPHA:37748
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Basal cell carcinoma, Squamous cell carcinoma of the skin, Decre... OMIM:620040
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Recurrent urinary tract infections, Recurrent otitis media, Decr... OMIM:619802
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia OMIM:619705
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Recurren... ORPHA:83471
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Decreased lymp... OMIM:606367
Netherton Syndrome
Decreased circulating IgG level, Sepsis, Increased circulating IgE level, Recurrent infection of ... OMIM:256500
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Autoimmunity ORPHA:2902
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:301081
Immunodeficiency 9
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:612782
Pneumocystosis
Neoplasm, Chronic oral candidiasis, Increased circulating antibody level ORPHA:723
Encephalitis Lethargica
Autoimmunity, Recurrent viral infections, Increased circulating antibody level ORPHA:83600
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferatio... OMIM:600802
Igg4-Related Kidney Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449395
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, A... ORPHA:79078
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Increased circulating IgE level, Autoimmune hemolytic anemia, Increas... OMIM:620565
Bloom Syndrome
Decreased circulating IgG level, Neoplasm of the skin, Recurrent tonsillitis, Lymphoma, Recurrent... ORPHA:125
Vici Syndrome
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgG2 level, Recurren... ORPHA:1493
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Reduced delayed hypersensitivity, Pyoderma, Recu... OMIM:242700
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Netherton Syndrome
Increased circulating IgE level, Recurrent infections, Decreased circulating antibody level, Recu... ORPHA:634
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Anti-glutamic acid decarboxylase antibody positivity, Autoimmune... OMIM:304790
Wiskott-Aldrich Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased specific anti-polysa... OMIM:301000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Sepsis, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... ORPHA:231154
Igg4-Related Ophthalmic Disease
Lymphoma, Increased circulating IgE level, Increased circulating IgG4 level, Antinuclear antibody... ORPHA:449563
Immunodeficiency 58
Recurrent upper respiratory tract infections, Verrucae, Recurrent pneumonia, Chronic mucocutaneou... OMIM:618131
Trichothiodystrophy 3, Photosensitive
Neoplasm of the skin, Recurrent infections, Increased circulating IgA level OMIM:616395
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating IgA level, Disseminated cutaneous warts, D... ORPHA:90362
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphoma, Decreased circulating IgA level, Autoimmunity, B-cell... ORPHA:90363
Leishmaniasis
Increased circulating antibody level ORPHA:507
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Decreased ... ORPHA:221139
Lassa Fever
Increased circulating IgM level, Sepsis ORPHA:99824
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphoma, Decreased circulatin... OMIM:208900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Recurrent upper respiratory tract infections, Sepsis, Panhypogam... OMIM:602450
Q Fever
Anticardiolipin IgG antibody positivity, Antimitochondrial antibody positivity, Increased circula... ORPHA:781
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent infections, Sepsis, Increased circulating IgE level, Autoimmunity, Autoimmune hemolytic... ORPHA:37042
Tularemia
Increased circulating antibody level ORPHA:3392
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level, Recurrent respiratory infections, Recurrent infections, Lymphoma ORPHA:2314
Primary Biliary Cholangitis
Autoimmunity, Antinuclear antibody positivity, Increased circulating IgA level, Recurrent fungal ... ORPHA:186
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Tick-Borne Encephalitis
Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c... ORPHA:297
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Trichothiodystrophy 5, Nonphotosensitive
Recurrent infections, Chronic decreased circulating IgG1 OMIM:300953
Ebola Hemorrhagic Fever
Sepsis, Increased circulating antibody level ORPHA:319218
Postinfectious Vasculitis
Recurrent mycobacterial infections, Abnormality of humoral immunity, Recurrent candida infections... ORPHA:48435
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:607143
Autoimmune Polyendocrinopathy Type 4
Thymoma, Rheumatoid arthritis, Autoimmunity, Antiphospholipid antibody positivity, Autoimmune thr... ORPHA:227990
Alg12-Cdg
Recurrent pneumonia, Sepsis, Abnormal circulating IgM level, Complete or near-complete absence of... ORPHA:79324
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ... OMIM:256040
Schimke Immuno-Osseous Dysplasia
Recurrent infections, Bone marrow hypocellularity, Impaired T cell function, Autoimmunity, Abnorm... ORPHA:1830
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Reduced circulating complement concentration ORPHA:449427
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Abnormal circ... OMIM:620376
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Lymphoma... OMIM:210900
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level ORPHA:86816
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Autoimmune Polyendocrinopathy Type 3
Thymoma, Rheumatoid arthritis, Autoimmunity, Hashimoto thyroiditis, Antiphospholipid antibody pos... ORPHA:227982
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:612301
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Decreased circulating IgG level, Squamous cell carcinoma, Recurrent infections OMIM:601675
Hyper-Igd Syndrome
Renal angiomyolipoma, Increased circulating IgA level, Recurrent infections, Increased circulatin... OMIM:260920
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Recurrent bacterial inf... OMIM:300972
Brucellosis
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive ORPHA:1304
Aspergillosis
Increased circulating IgE level, Hematological neoplasm ORPHA:1163
Congenital Disorder Of Glycosylation, Type Iil
Recurrent infections, Decreased specific anti-polysaccharide antibody level, Impaired T cell func... OMIM:614576
Proteasome-Associated Autoinflammatory Syndrome 3
Recurrent infections, Increased circulating antibody level OMIM:617591
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Scleromyxedema
Paraproteinemia, Multiple myeloma ORPHA:167635
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Recurrent respiratory infections OMIM:615508
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent bronchopulmonary infections, ... OMIM:617303
Riddle Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decreased circu... ORPHA:420741
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai... ORPHA:79329
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Orotic Aciduria
Impaired T cell function OMIM:258900
Poems Syndrome
Lymphoproliferative disorder, Hemangioma, Increased circulating antibody level ORPHA:2905
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Dubowitz Syndrome
Decreased circulating IgG level, Lymphoma, Decreased circulating IgA level, Neuroblastoma, Recurr... OMIM:223370
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Sepsis, Recurrent gastroenteritis, ... ORPHA:505248
Mevalonic Aciduria
Recurrent infections, Increased circulating IgD level OMIM:610377
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Gaucher Disease Type 1
Multiple myeloma, Increased circulating antibody level ORPHA:77259
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity ORPHA:330015
Primary Sjögren Syndrome
Anti-Ro/SS-A antibody positivity, Lymphoma, Reduced circulating complement concentration, Decreas... ORPHA:289390
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased circulating antibody l... ORPHA:3132
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Recur... OMIM:619381
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620005
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Recurrent infections, Recurrent respiratory infections OMIM:618278
Gaucher Disease Type 3
Recurrent respiratory infections, Increased circulating antibody level ORPHA:77261
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Reduced circulating complement concentration, Increased circulat... ORPHA:470
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Viss Syndrome
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level... OMIM:619472
Primary Sclerosing Cholangitis
Autoimmunity, Polyclonal elevation of IgM, Cholangiocarcinoma, Adenocarcinoma of the large intest... ORPHA:171
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Velocardiofacial Syndrome
Recurrent infections, Impaired T cell function OMIM:192430
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Trichinellosis
Increased circulating IgE level ORPHA:863
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Aicardi-Goutieres Syndrome 7
Recurrent lower respiratory tract infections, Increased circulating antibody level OMIM:615846
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, Neoplasm, Nephroblastoma, Hepatoblastoma, Neuroblastoma ORPHA:373
Gaucher Disease
Polyclonal elevation of IgM, Increased circulating antibody level ORPHA:355
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Recurrent infections, Secretory IgA deficiency 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