Article
Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.
Journal of clinical immunology - 1 Apr 2014
Murugan Dhaarini, Albert Michael H, Langemeier Jörg, Bohne Jens, Puchalka Jacek, Järvinen Päivi M, Hauck Fabian, Klenk Anne K, Prell Christine, Schatz Stephanie, Diestelhorst Jana, Sciskala Barbara, Kohistani Naschla, Belohradsky Bernd H, Müller Susanna, Kirchner Thomas, Walter Mark R, Bufler Philip, Muise Aleixo M, Snapper Scott B, Koletzko Sibylle, Klein Christoph, Kotlarz Daniel
Abstract excerpt
PURPOSE: Loss-of-function mutations in IL10 and IL10R cause very early onset inflammatory bowel disease (VEO-IBD). Here, we investigated the molecular pathomechanism of a novel intronic IL10RA mutation and describe a new therapeutic approach of T cell replete haploidentical hematopoietic stem cell transplantation (HSCT). METHODS: Clinical data were collected by chart review. Genotypes of IL10 and IL10R genes were...
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