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Diagnostic and Treatment Options for Severe IBD in Female X-CGD Carriers with Non-random X-inactivation

Fabian Hauck1, Sibylle Koletzko2, Christoph Walz3

  • 1Pediatric Hematology/Oncology/Immunology/Stem Cell Transplantation, Dr von Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany Immunological Diagnostics Laboratory, Dr von Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany fabian.hauck@med.uni-muenchen.de.

Journal of Crohn'S & Colitis
|October 15, 2015
PubMed

Insights

Severe inflammatory bowel disease (IBD) in female carriers of X-linked chronic granulomatous disease (X-CGD) may indicate non-random X-chromosome inactivation. Allogeneic stem cell transplant offers a curative option for these patients.

Area of Science:

  • Immunology
  • Genetics
  • Gastroenterology

Background:

  • X-linked chronic granulomatous disease (X-CGD) typically presents with infections and inflammation.
  • Inflammatory bowel disease (IBD) can be an isolated or additional manifestation of X-CGD.
  • Female carriers of X-CGD with non-random X-chromosome inactivation (XCI) may develop autoinflammatory conditions.

Purpose of the Study:

  • To investigate the link between X-CGD carrier status and severe, treatment-refractory Crohn-like IBD in female patients.
  • To evaluate the efficacy of allogeneic haematopoietic stem cell transplantation (alloHSCT) as a curative treatment for these patients.

Main Methods:

  • Case report of two female patients with severe Crohn-like IBD.
  • NADPH-oxidase activity testing and molecular genetics to confirm X-CGD carrier status and non-random XCI.
  • Histopathological analysis of colonic biopsies.
  • Treatment with submyelo-ablative conditioning followed by alloHSCT in one patient.

Main Results:

  • Two female patients presented with severe, treatment-refractory Crohn-like IBD.
  • Both patients were confirmed X-CGD carriers with non-random XCI.
  • The patient treated with alloHSCT achieved remission within 3 months and mucosal healing after 16 months.

Conclusions:

  • Refractory IBD in children and young adults warrants mandatory testing for CGD.
  • AlloHSCT should be considered a potentially curative therapy for severely affected female carriers of X-CGD with non-random XCI.
Abstract

Keywords:
X-chromosomal chronic granulomatous diseaseallogeneic haematopoietic stem cell transplantationinflammatory bowel disease

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