Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two

Clin Immunol. 2017 Jun:179:77-80. doi: 10.1016/j.clim.2017.03.004. Epub 2017 Mar 14.

Abstract

Mutations in PIK3R1 gene have been associated to two different conditions: a primary immunodeficiency, called APDS2, of recent description and SHORT syndrome. 47 patients with APDS2 have been reported to date, only one of them sharing both PIK3R1-related phenotypes. Here we describe two more patients affected by APDS2 and SHORT syndrome, which highlights that this association may not be so infrequent. We recommend that patients with mutations in PIK3R1 gene should be assessed by both clinical immunologists and clinical geneticists.

Keywords: Genetic diagnosis; Primary immunodeficiencies; SHORT syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Class I Phosphatidylinositol 3-Kinases / genetics
  • Class Ia Phosphatidylinositol 3-Kinase
  • Growth Disorders / genetics*
  • Humans
  • Hypercalcemia / genetics*
  • Immunologic Deficiency Syndromes / genetics*
  • Infant
  • Male
  • Metabolic Diseases / genetics*
  • Mutation
  • Nephrocalcinosis / genetics*
  • Phosphatidylinositol 3-Kinases / genetics*
  • Primary Immunodeficiency Diseases

Substances

  • PIK3R1 protein, human
  • Class I Phosphatidylinositol 3-Kinases
  • Class Ia Phosphatidylinositol 3-Kinase

Supplementary concepts

  • Activated PI3K-delta Syndrome
  • SHORT syndrome