Activated PI3K Delta Syndrome

Preferred Label : Activated PI3K Delta Syndrome;

NCIt synonyms : APDS; Activated PI3 Kinase Delta Syndrome; Activated Phosphoinositide 3-Kinase Delta Syndrome; Activated PI3K-Delta Syndrome;

NCIt definition : A rare, autosomal dominant inherited primary immunodeficiency disorder caused by mutations in either PIK3CD gene or PIK3R1 gene. Clinical manifestations include the following: recurrent respiratory tract infections; non-malignant lymphoproliferation that results in generalized lymphadenopathy and hepatosplenomegaly; chronic infections with Epstein-Barr virus, cytomegalovirus, and herpes simplex virus; cytopenia; and glomerulonephritis. Patients are at an increased risk of developing non-Hodgkin or Hodgkin lymphoma.;

Details

Origin ID

C203458;

UMLS CUI

C3714976;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Activated PI3 kinase delta syndrome [MedDRA Preferred Term]
- Activated PI3K-delta Syndrome [MeSH Supplementary Concept]
- Activated PI3K-delta Syndrome [MeSH concept]
- Activated PI3K-delta syndrome [ORDO Disease]
- Activated PI3K-delta syndrome (disorder) [SNOMED CT concept]
- Immunodeficiency 14a with lymphoproliferation, autosomal dominant [OMIM Phenotype]
- activated PI3K delta syndrome [Disease (Nov.)]
- immunodeficiency 14 [DO Concept]

Keyword's position in hierarchy(ies) :

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