common variable immunodeficiency
GPTKB entity
Statements (66)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
immunodeficiency
|
| gptkbp:abbreviation |
CVID
|
| gptkbp:affects |
immune system
|
| gptkbp:affectsCellType |
gptkb:B_cells
gptkb:T_cells |
| gptkbp:associatedWith |
mutations in ADA2
mutations in BAFF-R mutations in BLK mutations in CD19 mutations in CD20 mutations in CD21 mutations in CD27 mutations in CD70 mutations in CD81 mutations in CTLA4 mutations in ICOS mutations in IKZF1 mutations in IRF2BP2 mutations in LRBA mutations in MSH5 mutations in NFKB1 mutations in NFKB2 mutations in PIK3CD mutations in PIK3R1 mutations in PLCG2 mutations in PRKCD mutations in STAT1 mutations in STAT3 mutations in TACI mutations in TNFRSF13B |
| gptkbp:causedBy |
unknown
|
| gptkbp:complication |
gptkb:bronchiectasis
leukemia malignancy autoimmune cytopenias granulomatous disease |
| gptkbp:hasImmunologicalFeature |
impaired antibody response
low immunoglobulin A low immunoglobulin G low immunoglobulin M |
| gptkbp:hasOrphanetID |
ORPHA:1572
|
| https://www.w3.org/2000/01/rdf-schema#label |
common variable immunodeficiency
|
| gptkbp:ICD-10_code |
D83
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive sporadic |
| gptkbp:MedlinePlusID |
001606
|
| gptkbp:MeSH_ID |
D018352
|
| gptkbp:OMIM |
607594
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:otherName |
CVID
hypogammaglobulinemia, common variable |
| gptkbp:prevalence |
1 in 25,000 to 1 in 50,000
|
| gptkbp:symptom |
autoimmune disorders
splenomegaly lymphadenopathy recurrent infections gastrointestinal disorders chronic lung disease |
| gptkbp:treatment |
antibiotics
immunosuppressive therapy immunoglobulin replacement therapy |
| gptkbp:bfsParent |
gptkb:TACI
gptkb:CD19_gene |
| gptkbp:bfsLayer |
7
|