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:
CreatorsEmailORCIDORCID Put Code
Speckmann, C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lehmberg, K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Albert, M. H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Damgaard, R. B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fritsch, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gyrd-Hansen, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rensing-Ehl, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vraetz, T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grimbacher, B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Salzer, U.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fuchs, I.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ufheil, H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Belohradsky, B. H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hassan, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cale, C. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Elawad, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Strahm, B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schibli, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lauten, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kohl, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meerpohl, J. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rodeck, B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kolb, R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eberl, W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soerensen, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Bernuth, H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lorenz, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schwarz, K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
zur Stadt, U.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehl, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
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:
KeywordsLanguage
DISEASE; MUTATIONS; INFLAMMATION; GENE; IL10Multiple languages
ImmunologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/47529

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