Universität zu Köln

Klemann, Christian ORCID: 0000-0002-5639-8690, Pannicke, Ulrich, Morris-Rosendahl, Deborah J., Vlantis, Katerina, Rizzi, Marta, Uhlig, Holm, Vraetz, Thomas, Speckmann, Carsten ORCID: 0000-0002-6217-1556, Strahm, Brigitte, Pasparakis, Manolis ORCID: 0000-0002-9870-0966, Schwarz, Klaus, Ehl, Stephan and Rohr, Jan C. (2016). Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency. Clin. Immunol., 164. S. 52 - 57. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1521-7035

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Abstract

NF-kappa B essential modulator (NEMO) deficiency causes ectodermal dysplasia with immunodeficiency in males, while manifesting as incontinentia pigmenti in heterozygous females. We report a family with NEMO deficiency, in which a female carrier displayed skewed X-inactivation favoring the mutant NEMO allele associated with symptoms of Behget's disease. Hematopoietic stem cell transplantation of an affected boy from this donor reconstituted an immune system with retained skewed X-inactivation. After transplantation no more severe infections occurred, indicating that an active wild-type NEMO allele in only 10% of immune cells restores host defense. Yet he developed inflammatory bowel disease (IBD). While gut infiltrating immune cells stained strongly for nuclear p65 indicating restored NEMO function, this was not the case in intestinal epithelial cells in contrast to cells from conventional IBD patients. These results extend murine observations that epithelial NEMO-deficiency suffices to cause IBD. High anti-TNF doses controlled the intestinal inflammation and symptoms of Behget's disease. (C) 2016 Elsevier Inc. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Klemann, Christian UNSPECIFIED orcid.org/0000-0002-5639-8690 UNSPECIFIED Pannicke, Ulrich UNSPECIFIED UNSPECIFIED UNSPECIFIED Morris-Rosendahl, Deborah J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Vlantis, Katerina UNSPECIFIED UNSPECIFIED UNSPECIFIED Rizzi, Marta UNSPECIFIED UNSPECIFIED UNSPECIFIED Uhlig, Holm UNSPECIFIED UNSPECIFIED UNSPECIFIED Vraetz, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Speckmann, Carsten UNSPECIFIED orcid.org/0000-0002-6217-1556 UNSPECIFIED Strahm, Brigitte UNSPECIFIED UNSPECIFIED UNSPECIFIED Pasparakis, Manolis UNSPECIFIED orcid.org/0000-0002-9870-0966 UNSPECIFIED Schwarz, Klaus UNSPECIFIED UNSPECIFIED UNSPECIFIED Ehl, Stephan UNSPECIFIED UNSPECIFIED UNSPECIFIED Rohr, Jan C. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-282910
DOI:	10.1016/j.clim.2016.01.010
Journal or Publication Title:	Clin. Immunol.
Volume:	164
Page Range:	S. 52 - 57
Date:	2016
Publisher:	ACADEMIC PRESS INC ELSEVIER SCIENCE
Place of Publication:	SAN DIEGO
ISSN:	1521-7035
Language:	English
Faculty:	Faculty of Mathematics and Natural Sciences
Divisions:	Faculty of Mathematics and Natural Sciences > Department of Biology > Institute for Genetics
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ANHIDROTIC ECTODERMAL DYSPLASIA; X-CHROMOSOME INACTIVATION; INCONTINENTIA PIGMENTI; CELL TRANSPLANTATION; IMMUNE-DEFICIENCY; IMMUNODEFICIENCY; MUTATION; HOMEOSTASIS; DIAGNOSIS; DISEASES Multiple languages Immunology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/28291