Journal Article

Gastrointestinal Manifestations in X-linked Agammaglobulinemia

Chang, Yenhui, Bonilla, Francisco A., Ochs, Hans D., Ballas, Zuhair K., Abraham, Roshini S., Walter, Jolan E., Minhas, Jasmit, Barmettler, Sara, Dorsey, Morna J., Otani, Iris M.

2017

Overview

Purpose X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and increased susceptibility to infection. Although there is increased awareness of autoimmune and inflammatory complications in X-linked agammaglobulinemia (XLA), the spectrum of gastrointestinal manifestations has not previously been fully explored. Methods We present a case report of a family with two affected patients with XLA. Given the gastrointestinal involvement of the grandfather in this family, we performed a retrospective descriptive analysis of XLA patients with reported diagnoses of GI manifestations and inflammatory bowel disease (IBD) or enteritis registered at the United States Immunodeficiency Network, a national registry of primary immunodeficiencies. Results In this cohort of patients with XLA, we found that up to 35% had concurrent gastrointestinal manifestations, and 10% had reported diagnoses of IBD or enteritis. The most commonly reported mutations were missense, which have been associated with a less severe XLA phenotype in the literature. The severity of symptoms were wide ranging, and management strategies were diverse and mainly experimental. Conclusions Patients with XLA may require close monitoring with particular attention for GI manifestations including IBD and infectious enteritis. Further studies are needed to improve diagnosis and management of GI conditions in XLA patients.

• Publisher: Springer US,Springer Nature B.V
• Subject: Agammaglobulinemia - complications / Agammaglobulinemia - diagnosis / Agammaglobulinemia - therapy / Aged, 80 and over / Biomarkers / Biomedical and Life Sciences / Biomedicine / Gastrointestinal Diseases - diagnosis / Gastrointestinal Diseases - etiology / Gastrointestinal Tract - pathology / Genetic Association Studies / Genetic Diseases, X-Linked - complications / Genetic Diseases, X-Linked - diagnosis / Genetic Diseases, X-Linked - therapy / Humans / Immunoglobulin Isotypes - blood / Immunology / Immunophenotyping / Infant / Infectious Diseases / Internal Medicine / Lymphocyte Subsets - immunology / Lymphocyte Subsets - metabolism / Male / Medical Microbiology / Mutation / Original Article / Pedigree / Phenotype