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Gene: Btn2a2 MGI:3606486

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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
Btn2a2em1(IMPC)Wtsi
tooth, abnormal tooth eruption, supernumerary teeth, HOM, Female, WTSI
Btn2a2em1(IMPC)Wtsi
head, snout, abnormal snout morphology, asymmetric snout, malocclusion, HOM, Female, WTSI
Btn2a2em1(IMPC)Wtsi
head, abnormal snout morphology, snout, upturned snout, HOM, Female, WTSI

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
Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ... OMIM:613495
Immunodeficiency 24
Decreased circulating IgG level, Lymphoproliferative disorder, Recurrent viral infections, Defect... OMIM:615897
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:619220
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Lymphoproliferative disorder OMIM:242880
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, B-cell lymphoma, Increased circulating IgA level, Autoimmune thrombo... OMIM:618534
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 95
Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le... OMIM:619773
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re... OMIM:610163
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... OMIM:137100
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmuni... OMIM:609529
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:601859
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 2
Impaired T cell function, Autoimmunity, Recurrent pneumonia, Lymphoma, Recurrent bacterial infect... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Lymphoma, Leukemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... OMIM:614699
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 62
Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respiratory tract infect... OMIM:618459
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level, Recurre... OMIM:618982
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased circul... ORPHA:98813
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Increased circulating IgA level, Antinuclear antibody positivity, Ant... OMIM:618048
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Lymphoproliferative disorder, Autoimmunity, Autoimmune thromboc... OMIM:614470
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportuni... ORPHA:275
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Lymphoproliferative disorder, B-cell lymphoma, Recurrent viral ... OMIM:300853
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... ORPHA:411593
C1Q Deficiency 1
Systemic lupus erythematosus, Autoimmunity, Decreased circulating complement factor I concentrati... OMIM:613652
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Myeloma, Multiple
Paraproteinemia, Multiple myeloma OMIM:254500
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Recurrent opportunistic infections, Recurrent upper respiratory tract infections, I... ORPHA:277
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:603909
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level OMIM:233650
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circulating complement C... OMIM:614420
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... OMIM:619707
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Systemic lupus erythematosus OMIM:613791
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:243700
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... OMIM:618944
Chilblain Lupus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity... ORPHA:90280
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating IgA level, Recurrent viral infections, Autoimmune thromboc... ORPHA:169154
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Lymphoproliferative disorder, Abnormal immunoglobulin level,... ORPHA:276
Immunodeficiency 109 With Lymphoproliferation
Decreased lymphocyte proliferation in response to anti-CD3, Hodgkin lymphoma, Recurrent sinusitis... OMIM:620282
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, I... OMIM:615513
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, Common Variable, 1
Impaired T cell function, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodi... OMIM:607594
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinemia, Decreased circulat... OMIM:300400
Subcorneal Pustular Dermatosis
Autoimmunity, Systemic lupus erythematosus, Increased circulating antibody level, Multiple myelom... ORPHA:48377
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... ORPHA:449400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Au... OMIM:615559
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tract infections, Recurre... OMIM:615577
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Hodgkin lymphoma, Recurrent infections, Decreased circulating antib... OMIM:618261
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac... OMIM:617765
Complement Component C1R/C1S Deficiency
Complement deficiency, Autoimmunity, Recurrent bronchitis OMIM:216950
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level OMIM:300636
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch... OMIM:613496
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 11A
Agammaglobulinemia, Recurrent respiratory infections, Reduced antigen-specific T cell proliferati... OMIM:615206
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive OMIM:209950
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... ORPHA:217390
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level OMIM:617006
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Activated Pi3K-Delta Syndrome
Autoimmunity, Recurrent tonsillitis, Lymphoma, Decreased circulating antibody level, Increased ci... ORPHA:397596
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Autoimmunity, Decreased circulating a... ORPHA:169079
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Abnormal immunoglobulin level ORPHA:90159
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, In... OMIM:617388
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Complement Component C1S Deficiency
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, De... OMIM:619824
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, B-cell lymphoma, Autoimm... OMIM:613011
Immunodeficiency 36 With Lymphoproliferation
Autoimmunity, B-cell lymphoma, Recurrent upper respiratory tract infections, Chronic lymphatic le... OMIM:616005
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Immunodeficiency 96
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... OMIM:619774
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Recurrent infections, Reduced natural killer cell activity OMIM:614493
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Antiphospholipid antibody positivity, Rheumatoid factor positiv... OMIM:615934
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Thyroid carcinoma, Decreased circula... ORPHA:3261
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections OMIM:615214
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level, Acute monocytic leukemia OMIM:202700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Recurrent viral infections, Decreased circulating anti... ORPHA:331206
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Perinuclear antineutrophil antibody positivity, Decreased cir... OMIM:618394
Immunodeficiency 15B
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc... OMIM:615592
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:2137
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... OMIM:616100
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Autoimmune h... ORPHA:572
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Immunodeficiency 23
Recurrent respiratory infections, Rheumatoid factor positive, Recurrent staphylococcal infections... OMIM:615816
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased circulating... OMIM:614069
Immunodeficiency 66
Defective T cell proliferation, Sepsis OMIM:618847
C3 Glomerulopathy
Autoimmunity, Paraproteinemia, Recurrent infections, Decreased circulating complement C3 concentr... ORPHA:329918
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent pneumonia, Recurrent candida infections, Recurrent infections, Increased circulating an... ORPHA:169160
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Autoimmunity, Myelodysplasia, Bone marrow hypocellularity, Multiple linea... ORPHA:98827
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Recur... OMIM:619281
Immunodeficiency 105
B-cell lymphoma, Decreased circulating antibody level, Decreased circulating total IgM, Decreased... OMIM:619924
Pgm3-Cdg
Recurrent respiratory infections, Rheumatoid factor positive, Autoimmunity, Increased circulating... ORPHA:443811
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... 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
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Autoimmune thrombocytopeni... OMIM:619846
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Selective Igm Deficiency
Non-Hodgkin lymphoma, Recurrent staphylococcal infections, Paraproteinemia, Sepsis, Recurrent cut... ORPHA:331235
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... ORPHA:436159
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
Immunodeficiency 22
Autoimmunity, Recurrent upper respiratory tract infections, Decreased circulating total IgM, Decr... OMIM:615758
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec... OMIM:308240
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Neop... ORPHA:64744
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Immunodeficiency 81
Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Reduced natural killer cell a... OMIM:619374
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Recurrent i... OMIM:616576
Interstitial Lung Disease 2
Alveolar cell carcinoma, Increased circulating antibody level OMIM:178500
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG,... ORPHA:91139
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48104
Thymoma
Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Neoplasm of head... ORPHA:99867
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Impaired T cell function, Recurr... OMIM:613179
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper respirato... OMIM:615952
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Recurrent infections, Bone marrow hypocellularity, Chronic oral cand... OMIM:301078
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia OMIM:616069
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic... OMIM:147060
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Recurrent urinary tract infections, Decreased circulating IgG le... OMIM:620210
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Myelodysplasia, Lymphoma, Systemic lupus erythematosus, Bone marrow hypoc... OMIM:616871
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Recurrent viral infections, Recurrent upper respiratory tract... OMIM:209920
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmunity, Recurrent upp... ORPHA:183675
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Igg4-Related Submandibular Gland Disease
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level OMIM:618523
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Immunodeficiency 32B
Impaired oxidative burst, Recurrent infections, Recurrent respiratory infections, Abnormal circul... OMIM:226990
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Increased circulating IgE level, Increased circulating IgG leve... OMIM:618213
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Caffey Disease
Increased circulating antibody level ORPHA:1310
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgE, Dec... OMIM:619510
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Recurrent infections, Autoimmunity, Decreased circulating antibody level OMIM:617780
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Auto... OMIM:614700
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Increased circulating IgE level, Recurrent pneumonia, Chronic m... OMIM:618282
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Partial IgA deficiency, Recurrent viral infections, Recurrent o... ORPHA:35078
Insulin-Resistance Syndrome Type B
Autoimmunity, Decreased circulating complement factor B concentration, Increased circulating IgA ... ORPHA:2298
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Par... OMIM:618986
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Hematological neoplasm, Systemic lupus erythematosus, Neoplasm, Rheumatoid arthritis ORPHA:399180
Schnitzler Syndrome
Increased circulating IgM level, Lymphoma ORPHA:37748
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Iga Pemphigus
Autoimmune antibody positivity, Monoclonal elevation of circulating IgA, Increased circulating Ig... ORPHA:555905
Dyskeratosis Congenita, Digenic
Recurrent infections, Decreased circulating total IgM, Basal cell carcinoma, Melanoma, Squamous c... OMIM:620040
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, B-cell lymphoma, Recurrent viral ... OMIM:102700
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Autoimmune antibody positivity ORPHA:90003
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Autoimmune hemolytic anem... OMIM:619802
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2,... OMIM:615607
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Prolidase Deficiency
Recurrent pneumonia, Increased circulating antibody level, Systemic lupus erythematosus, Recurren... OMIM:170100
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased lymphocyte proliferation... OMIM:606367
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Autoimmuni... ORPHA:83471
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Sepsis, Decreased circulating ... OMIM:256500
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Pneumocystosis
Neoplasm, Increased circulating antibody level, Chronic oral candidiasis ORPHA:723
Encephalitis Lethargica
Increased circulating antibody level, Autoimmunity, Recurrent viral infections ORPHA:83600
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
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Autoimmunity ORPHA:2902
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio... ORPHA:1493
Igg4-Related Dacryoadenitis And Sialadenitis
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinuclear anti... ORPHA:79078
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... OMIM:619652
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma,... OMIM:242700
Bloom Syndrome
Acute myeloid leukemia, Malignant genitourinary tract tumor, Recurrent urinary tract infections, ... ORPHA:125
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Anti-glutamic acid decarboxylase antibody positivity, Autoimmune... OMIM:304790
Igg4-Related Kidney Disease
Rheumatoid factor positive, Increased circulating IgG4 level, Antinuclear antibody positivity, In... ORPHA:449395
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Reduced natural killer cell activity, ... OMIM:301000
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease... ORPHA:634
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Antinuclear antibody positivity, Lymphoma, Increased circulatin... ORPHA:449563
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgA level, Antinuclear antibody positivity, Increased circula... ORPHA:186
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmunity, ... ORPHA:231154
Ataxia-Telangiectasia
Decreased circulating IgG level, Recurrent bronchitis, Lymphoma, Hodgkin lymphoma, Acute lymphobl... OMIM:208900
Trichothiodystrophy 3, Photosensitive
Recurrent infections, Neoplasm of the skin, Increased circulating IgA level OMIM:616395
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... OMIM:618131
Primary Intestinal Lymphangiectasia
Disseminated cutaneous warts, Decreased circulating antibody level, Decreased circulating total I... ORPHA:90362
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, B-cell lymphoma, Lymphoma, Recurrent infections, ... ORPHA:90363
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia, Sepsis, Recurrent upper respiratory tr... OMIM:602450
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... ORPHA:221139
Leishmaniasis
Increased circulating antibody level ORPHA:507
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Lassa Fever
Increased circulating IgM level, Sepsis ORPHA:99824
Q Fever
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anticardiolipin IgG antibody po... ORPHA:781
Tularemia
Increased circulating antibody level ORPHA:3392
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Lymphoma, Recurrent infections ORPHA:2314
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy... ORPHA:37042
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Tick-Borne Encephalitis
Increased circulating IgG level, Increased circulating IgM level, Abnormality of serum cytokine l... ORPHA:297
Autoimmune Polyendocrinopathy Type 4
Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune antib... ORPHA:227990
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Trichothiodystrophy 5, Nonphotosensitive
Chronic decreased circulating IgG1, Recurrent infections OMIM:300953
Postinfectious Vasculitis
Rheumatoid factor positive, Increased circulating IgA level, Antinuclear antibody positivity, Rec... ORPHA:48435
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig... OMIM:607143
Autoimmune Polyendocrinopathy Type 3
Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune antib... ORPHA:227982
Alg12-Cdg
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... ORPHA:79324
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level ORPHA:86816
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Ebola Hemorrhagic Fever
Increased circulating antibody level, Sepsis ORPHA:319218
Igg4-Related Pachymeningitis
Complement deficiency, Increased circulating IgG4 level ORPHA:449427
Bloom Syndrome
Recurrent upper respiratory tract infections, Lymphoma, Squamous cell carcinoma, Decreased circul... OMIM:210900
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Schimke Immuno-Osseous Dysplasia
Lymphoproliferative disorder, Autoimmunity, Impaired T cell function, Abnormal lymphocyte physiol... ORPHA:1830
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Increased circulating IgA level OMIM:617099
Hyper-Igd Syndrome
Increased circulating IgA level, Recurrent infections, Chronic oral candidiasis, Renal angiomyoli... OMIM:260920
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Recurrent infections, Decr... OMIM:300972
Trichothiodystrophy 1, Photosensitive
Squamous cell carcinoma, Basal cell carcinoma, Decreased circulating IgG level, Recurrent infections OMIM:601675
Brucellosis
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive ORPHA:1304
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Recurrent infect... OMIM:614576
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Recurrent infections OMIM:617591
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... OMIM:242840
Aspergillosis
Increased circulating IgE level, Hematological neoplasm ORPHA:1163
Scleromyxedema
Paraproteinemia, Multiple myeloma ORPHA:167635
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Sep... OMIM:617303
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Increased circulating IgE level OMIM:615508
Riddle Syndrome
Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinus... ORPHA:420741
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Mgat2-Cdg
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:79329
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre... ORPHA:508533
Poems Syndrome
Hemangioma, Lymphoproliferative disorder, Increased circulating antibody level ORPHA:2905
Orotic Aciduria
Impaired T cell function OMIM:258900
Dubowitz Syndrome
Lymphoma, Recurrent infections, Acute lymphoblastic leukemia, Neuroblastoma, Decreased circulatin... OMIM:223370
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Sepsis, Increased circulating IgM level, Bone marrow hypocellul... ORPHA:505248
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Mevalonic Aciduria
Increased circulating IgD level, Recurrent infections OMIM:610377
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Lead Poisoning
Abnormality of humoral immunity, Increased circulating IgE level ORPHA:330015
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, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, B-cell lymphoma, Recurrent infections, Decreased circulating tot... OMIM:619381
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... OMIM:620005
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent infections OMIM:618278
Gaucher Disease Type 3
Recurrent respiratory infections, Increased circulating antibody level ORPHA:77261
Lysinuric Protein Intolerance
Antinuclear antibody positivity, Decreased circulating antibody level, Abnormality of humoral imm... ORPHA:470
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Viss Syndrome
Exostosis of the external auditory canal, Increased circulating IgG level, Increased circulating ... OMIM:619472
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Autoimmunity, Adenocarcinoma of the large intestine, Poly... ORPHA:171
Primary Sjögren Syndrome
Lymphoproliferative disorder, Lymphoma, Decreased circulating antibody level, Decreased circulati... ORPHA:289390
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Cysticercosis
Increased circulating antibody level ORPHA:1560
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
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
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, Neuroblastoma, Hepatoblastoma, Nephroblastoma ORPHA:373
Gaucher Disease
Increased circulating antibody level ORPHA:355
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency, Recurrent infections ORPHA:500150
Marburg Hemorrhagic Fever
Increased circulating antibody level ORPHA:99826
Yellow Fever
Increased circulating IgM level, Increased circulating interleukin 6 concentration 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 PMC6671969

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Btn2a2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Btn2a2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Btn2a2em1(IMPC)Wtsi Deletion Mice
Btn2a2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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