Gastrointestinal Manifestations in X-linked Agammaglobulinemia

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

doi:10.1007/s10875-017-0374-x

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Gastrointestinal Manifestations in X-linked Agammaglobulinemia

Journal article

Peer reviewed

Gastrointestinal Manifestations in X-linked Agammaglobulinemia

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

Journal of clinical immunology, Vol.37(3), pp.287-294

04/2017

DOI: 10.1007/s10875-017-0374-x

PMCID: PMC5414010

PMID: 28236219

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https://www.ncbi.nlm.nih.gov/pmc/articles/5414010View

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Abstract

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. 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. 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. 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.

Agammaglobulinemia - complications

Genetic Association Studies

Agammaglobulinemia - therapy

Humans

Gastrointestinal Diseases - etiology

Genetic Diseases, X-Linked - complications

Agammaglobulinemia - diagnosis

Immunophenotyping

Infant

Male

Gastrointestinal Diseases - diagnosis

Gastrointestinal Tract - pathology

Genetic Diseases, X-Linked - diagnosis

Lymphocyte Subsets - immunology

Lymphocyte Subsets - metabolism

Immunoglobulin Isotypes - blood

Phenotype

Pedigree

Aged, 80 and over

Biomarkers

Mutation

Genetic Diseases, X-Linked - therapy

Details

Title: Subtitle: Gastrointestinal Manifestations in X-linked Agammaglobulinemia
Creators: Sara Barmettler - Massachusetts General Hospital, Boston, MA, USA. sbarmettler@mgh.harvard.edu
Iris M Otani - University of San Francisco, San Francisco, CA, USA
Jasmit Minhas - Lahey Hospital & Medical Center, Burlington, MA, USA
Roshini S Abraham - Mayo Clinic, Rochester, MN, USA
Yenhui Chang - University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA
Morna J Dorsey - University of San Francisco, San Francisco, CA, USA
Zuhair K Ballas - University of Iowa Hospitals and Clinic, Iowa City, IA, USA
Francisco A Bonilla - Boston Children's Hospital, Boston, MA, USA
Hans D Ochs - Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA
Jolan E Walter - University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA
Resource Type: Journal article
Publication Details: Journal of clinical immunology, Vol.37(3), pp.287-294
DOI: 10.1007/s10875-017-0374-x
PMID: 28236219
PMCID: PMC5414010
NLM abbreviation: J Clin Immunol
ISSN: 0271-9142
eISSN: 1573-2592
Grant note: T32 HL116275 / NHLBI NIH HHS
Language: English
Date published: 04/2017
Academic Unit: Immunology; Internal Medicine
Record Identifier: 9984094368202771

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