Universität zu Köln

Speckmann, C., Lehmberg, K., Albert, M. H., Damgaard, R. B., Fritsch, M., Gyrd-Hansen, M., Rensing-Ehl, A., Vraetz, T., Grimbacher, B., Salzer, U., Fuchs, I., Ufheil, H., Belohradsky, B. H., Hassan, A., Cale, C. M., Elawad, M., Strahm, B., Schibli, S., Lauten, M., Kohl, M., Meerpohl, J. J., Rodeck, B., Kolb, R., Eberl, W., Soerensen, J., von Bernuth, H., Lorenz, M., Schwarz, K., zur Stadt, U. and Ehl, S. (2013). X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin. Immunol., 149 (1). S. 133 - 142. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1521-7035

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Abstract

X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was initially described in patients with X-linked lymphoproliferative syndrome (XLP) who had no mutations in SH2D1A. In the initial reports, EBV-associated hemophagocytic lymphohistiocytosis (HLH) was the predominant clinical phenotype. Among 25 symptomatic patients diagnosed with XIAP deficiency, we identified 17 patients who initially presented with manifestations other than HLH. These included Crohn-like bowel disease (n = 6), severe infectious mononucleosis (n = 4), isolated splenomegaly (n = 3), uveitis (n = 1), periodic fever (n = 1), fistulating skin abscesses (n = 1) and severe Giardia enteritis (n = 1). Subsequent manifestations included celiac-like disease, antibody deficiency, spienomegaly and partial HLH. Screening by flow cytometry identified 14 of 17 patients in our cohort. However, neither genotype nor protein expression nor results from cell death studies were clearly associated with the clinical phenotype. Only mutation analysis can reliably identify affected patients. XIAP deficiency must be considered in a wide range of clinical presentations. (C) 2013 Elsevier Inc. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Speckmann, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lehmberg, K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Albert, M. H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Damgaard, R. B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fritsch, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gyrd-Hansen, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rensing-Ehl, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Vraetz, T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Grimbacher, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Salzer, U. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fuchs, I. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ufheil, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Belohradsky, B. H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hassan, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cale, C. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Elawad, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Strahm, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schibli, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lauten, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kohl, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Meerpohl, J. J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rodeck, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kolb, R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Eberl, W. UNSPECIFIED UNSPECIFIED UNSPECIFIED Soerensen, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED von Bernuth, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lorenz, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schwarz, K. UNSPECIFIED UNSPECIFIED UNSPECIFIED zur Stadt, U. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ehl, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-475294
DOI:	10.1016/j.clim.2013.07.004
Journal or Publication Title:	Clin. Immunol.
Volume:	149
Number:	1
Page Range:	S. 133 - 142
Date:	2013
Publisher:	ACADEMIC PRESS INC ELSEVIER SCIENCE
Place of Publication:	SAN DIEGO
ISSN:	1521-7035
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DISEASE; MUTATIONS; INFLAMMATION; GENE; IL10 Multiple languages Immunology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/47529