APDS syndrome

Also known as: Activated PI3K delta syndrome

Combined immunodeficiency with lymphoproliferation.

Medical specialty: Immunology
Subspecialty: Immunology / Immune dysregulation
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: PIK3CD, PIK3R1

Etiology & mechanism

Gain-of-function PIK3CD or loss of PIK3R1.

Gene(s) involved (2)

PIK3CDPIK3R1

Symptoms & signs (3)

herpesvirus infectionslymphadenopathyrecurrent sinopulmonary infections

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.