Mutations in PIK3R1 can result in the APDS2 Syndrome.
Synonym: immunodeficiency Type 36
APDS2 = Activated PI3-kinase delta syndrome Type 2
Chromosome: 5q13.1
Gene: PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)
Clinical and laboratory features:
(1) primary immunodeficiency with hypogammaglobulinemia and immune dysregulation
(2) recurrent pulmonary infections
(3) variable autoimmunity
(4) variable lymphoproliferative disorder
(5) variable Hyper-IgM
(6) variable IgE-mediated food allergy
(7) rarely expression of physical features of the SHORT syndrome
