Document Type

Article

Publication Date

1-1-2017

Identifier

PMCID: PMC5395656 DOI: 10.3389/fped.2017.00071

Abstract

Activated PI3K-δ syndrome refers to a recently described primary immunodeficiency syndrome consisting of recurrent sinopulmonary infections, lymphadenopathy, mucosal lymphoid aggregates, increased susceptibility to Epstein-Barr virus and cytomegalovirus, and increased incidence of B-cell lymphomas. Variants in PIK3CD, which encodes the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta isoform, enhance membrane association and kinase activity, resulting in increased signal transduction through the PI3K-Akt pathway. Whole-exome sequencing revealed a pathogenic PIK3CD variant in a patient with history of immunologic impairment, recurrent sinopulmonary infections, and lymphoid hyperplasia presenting as intussusception. This case illustrates that while lymphoid hyperplasia secondary to immunodeficiency is most often unsurprising and non-threatening, it can present as an emergency-like intussusception.

Journal Title

Front Pediatr

Volume

5

First Page

71

Last Page

71

MeSH Keywords

Lymphoma, B-Cell; Hyperplasia; Immunologic Deficiency Syndromes; PIK3CD protein, human; Intussusception; Whole Exome Sequencing

Keywords

B-cell lymphomas; PIK3CD; lymphoid hyperplasia; primary immunodeficiency; sinopulmonary infections

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