A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.

ABSTRACT:

Background

The PI3K/AKT pathway, extensively studied in cancer, is vital for regulating cell metabolism, differentiation, and proliferation. Pathogenic variants in the PIK3R1 gene, which encodes three regulatory units of class IA PI3Ks, have been found in affected tissue of individuals with vascular lesions. These variants predominantly occur in the iSH2 domain, disrupting inhibitory contacts with the catalytic unit and leading to PI3K activation. Germline variants in this gene are also linked to an immunological condition called Activated PI3K delta syndrome type 2 (APDS2).

Methods

This is a case report and literature review. Clinical data were retrieved from medical records.

Results

A male patient presented with extensive vascular malformation covering over 90% of h

SUBMITTER: Wilke MVMB 

PROVIDER: S-EPMC10724508 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature