Format

Send to

Choose Destination
J Clin Immunol. 2017 Apr;37(3):287-294. doi: 10.1007/s10875-017-0374-x. Epub 2017 Feb 24.

Gastrointestinal Manifestations in X-linked Agammaglobulinemia.

Author information

1
Massachusetts General Hospital, Boston, MA, USA. sbarmettler@mgh.harvard.edu.
2
Massachusetts General Hospital, Boston, MA, USA.
3
University of San Francisco, San Francisco, CA, USA.
4
Lahey Hospital & Medical Center, Burlington, MA, USA.
5
Mayo Clinic, Rochester, MN, USA.
6
University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA.
7
University of Iowa Hospitals and Clinic, Iowa City, IA, USA.
8
Boston Children's Hospital, Boston, MA, USA.
9
Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.

Abstract

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.

KEYWORDS:

BTK; Bruton’s agammaglobulinemia; GI manifestations; IBD; X-linked agammaglobulinemia; XLA; enteritis; gastrointestinal manifestations; inflammatory bowel disease

PMID:
28236219
PMCID:
PMC5414010
DOI:
10.1007/s10875-017-0374-x
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Springer Icon for PubMed Central
Loading ...
Support Center