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

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