Preferred Label : Activated PI3K-Delta Syndrome 1;
NCIt synonyms : APDS1; PIK3CD-Associated Immunodeficiency;
NCIt definition : A rare, autosomal dominant inherited primary immunodeficiency disorder caused by mutations
in PIK3CD 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.;
NCI Metathesaurus CUI : CL1922687;
Origin ID : C203459;
UMLS CUI : C5907821;
Semantic type(s)
- disease_has_primary_anatomic_site
- disease_mapped_to_gene
