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Updated: Mar 6, 2026

Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors
Published on: July 17, 2020
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two
M Bravo García-Morato1, S García-Miñaúr2, J Molina Garicano3
1Department of Clinical Immunology, IdiPAZ, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
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.
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