Article
Diagnostic and Treatment Options for Severe IBD in Female X-CGD Carriers with Non-random X-inactivation.
Journal of Crohn's & colitis - 1 Jan 2016
Hauck Fabian, Koletzko Sibylle, Walz Christoph, von Bernuth Horst, Klenk Anne, Schmid Irene, Belohradsky Bernd H, Klein Christoph, Bufler Philip, Albert Michael H
Abstract excerpt
BACKGROUND AND AIMS: X-linked chronic granulomatous disease [X-CGD] due to hemizygous mutations in CYBB is characterised by invasive bacterial and fungal infections and granulomatous inflammation. Inflammatory bowel disease [IBD] is an additional or isolated manifestation. Allogeneic haematopoietic stem cell transplantation [alloHSCT] is the standard curative treatment. X-CGD carriers are usually healthy but...
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