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Utility of Screening for Chronic Granulomatous Disease in Patients with Inflammatory Bowel Disease

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Abstract

Chronic granulomatous disease (CGD), a genetically heterogeneous primary X-linked or autosomal recessive immunodeficiency, can manifest with gastrointestinal symptoms, including colitis or Crohn’s disease. The frequency of CGD carriers among those with chronic colitis/inflammatory bowel disease is unknown. We underwent a pilot study examining the value of prospectively screening patients with chronic colitis/inflammatory bowel disease (IBD) for either CGD or the carrier state of CGD. No carriers of CGD or patients with CGD were detected among 120 patients. Three patients had inconclusive results and the assay was normal on repeat testing. We conclude that routine screening for CGD was not instructive in this cohort of chronic colitis or IBD patients.

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Abbreviations

DHR:

Dihydrorhodamine assay

CGD:

Chronic granulomatous disease

IBD:

Inflammatory bowel disease

SLE:

Systemic lupus erythematosus

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Acknowledgment

This work was supported by the Children’s Research Institute at Nationwide Children’s Hospital.

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Authors and Affiliations

  1. Section of Infectious Diseases and Immunology, Nationwide Children’s Hospital, Columbus, OH, USA

    Preeti Jaggi & Rose Knieper

  2. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA

    Rebecca Scherzer

  3. Section of Gastroenterology, Nationwide Children’s Hospital, Columbus, OH, USA

    Hayat Mousa

  4. Section of Pathology, Nationwide Children’s Hospital, Columbus, OH, USA

    Vinay Prasad

Authors
  1. Preeti Jaggi
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  2. Rebecca Scherzer
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  3. Rose Knieper
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  4. Hayat Mousa
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  5. Vinay Prasad
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Corresponding author

Correspondence to Preeti Jaggi.

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Jaggi, P., Scherzer, R., Knieper, R. et al. Utility of Screening for Chronic Granulomatous Disease in Patients with Inflammatory Bowel Disease. J Clin Immunol 32, 78–81 (2012). https://doi.org/10.1007/s10875-011-9608-5

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  • DOI: https://doi.org/10.1007/s10875-011-9608-5

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