Common Variable Immune Deficiency (CVID)
GPTKB entity
Statements (40)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:primary_immunodeficiency_disorder
|
| gptkbp:affects |
gptkb:B_cells
antibody production |
| gptkbp:alsoKnownAs |
CVID
|
| gptkbp:cause |
gptkb:unknown
|
| gptkbp:characterizedBy |
impaired antibody production
low levels of serum immunoglobulins |
| gptkbp:complication |
gptkb:leukemia
gptkb:bronchiectasis autoimmune cytopenias granulomatous disease |
| gptkbp:diagnosedBy |
assessment of antibody response to vaccines
measurement of immunoglobulin levels |
| gptkbp:firstDescribed |
1953
|
| gptkbp:geneticStudies |
mutations in genes such as ICOS, TACI, CD19, CD20, CD21, CD81
|
| gptkbp:ICD-10_code |
D83
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive sporadic |
| gptkbp:MeSH_ID |
D018352
|
| gptkbp:OMIM |
607594
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:prevalence |
1 in 25,000 to 1 in 50,000
|
| gptkbp:riskFactor |
family history of immunodeficiency
|
| gptkbp:supportersGroup |
Immune Deficiency Foundation
Jeffrey Modell Foundation |
| gptkbp:symptom |
autoimmune disorders
splenomegaly lymphadenopathy recurrent infections gastrointestinal disorders chronic lung disease |
| gptkbp:treatment |
immunoglobulin replacement therapy
antibiotics for infections immunosuppressive therapy for autoimmune complications |
| gptkbp:bfsParent |
gptkb:Ironmouse
gptkb:IronMouse |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Common Variable Immune Deficiency (CVID)
|