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Gastrointestinal Manifestations in X-linked Agammaglobulinemia

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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.

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Authors and Affiliations

  1. Massachusetts General Hospital, Boston, MA, USA

    Sara Barmettler, Iris M. Otani & Jolan E. Walter

  2. University of San Francisco, San Francisco, CA, USA

    Iris M. Otani & Morna J. Dorsey

  3. Lahey Hospital & Medical Center, Burlington, MA, USA

    Jasmit Minhas

  4. Mayo Clinic, Rochester, MN, USA

    Roshini S. Abraham

  5. University of South Florida at Johns Hopkins All Children’s Hospital, St. Petersburg, FL, USA

    Yenhui Chang & Jolan E. Walter

  6. University of Iowa Hospitals and Clinic, Iowa City, IA, USA

    Zuhair K. Ballas

  7. Boston Children’s Hospital, Boston, MA, USA

    Francisco A. Bonilla

  8. Center for Immunity and Immunotherapies, Seattle Children’s Research Institute, Seattle, WA, USA

    Hans D. Ochs

Authors
  1. Sara Barmettler
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  2. Iris M. Otani
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  3. Jasmit Minhas
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  4. Roshini S. Abraham
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  5. Yenhui Chang
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  6. Morna J. Dorsey
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  7. Zuhair K. Ballas
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  8. Francisco A. Bonilla
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  9. Hans D. Ochs
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  10. Jolan E. Walter
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Corresponding author

Correspondence to Sara Barmettler.

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The authors declare that they have no conflict of interest.

Additional information

Sara Barmettler and Iris M. Otani are shared first co-authors.

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Barmettler, S., Otani, I.M., Minhas, J. et al. Gastrointestinal Manifestations in X-linked Agammaglobulinemia. J Clin Immunol 37, 287–294 (2017). https://doi.org/10.1007/s10875-017-0374-x

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  • DOI: https://doi.org/10.1007/s10875-017-0374-x

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