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
Recommended Citation
Mettman D, Thiffault I, Dinakar C, Saunders C. Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome. Front Pediatr. 2017;5:71. Published 2017 Apr 19. doi:10.3389/fped.2017.00071
Included in
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Medical Genetics Commons, Medical Pathology Commons, Pathology Commons
Comments
his is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Publisher's Link: https://www.frontiersin.org/articles/10.3389/fped.2017.00071/full