label: Activated PI3K-Delta Syndrome 1
label_lc: activated pi3k-delta syndrome 1
description: "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."