X-linked inhibitor of apoptosis (XIAP) deficiency the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

X-linked inhibitor of apoptosis (XIAP) deficiency : the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

© 2013.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 149(2013), 1 vom: 20. Okt., Seite 133-41
1. Verfasser: Speckmann, C (VerfasserIn)
Weitere Verfasser: 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, Ehl, S
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2013
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Research Support, Non-U.S. Gov't BIRC4 Hematopoietic stem cell transplantation Hemophagocytic lymphohistiocytosis Inflammatory bowel disease XIAP X-Linked Inhibitor of Apoptosis Protein XIAP protein, human
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100 1 |a Speckmann, C  |e verfasserin  |4 aut 
245 1 0 |a X-linked inhibitor of apoptosis (XIAP) deficiency  |b the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis 
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520 |a © 2013. 
520 |a 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, splenomegaly 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 
650 4 |a Journal Article 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a BIRC4 
650 4 |a Hematopoietic stem cell transplantation 
650 4 |a Hemophagocytic lymphohistiocytosis 
650 4 |a Inflammatory bowel disease 
650 4 |a XIAP 
650 7 |a X-Linked Inhibitor of Apoptosis Protein  |2 NLM 
650 7 |a XIAP protein, human  |2 NLM 
700 1 |a Lehmberg, K  |e verfasserin  |4 aut 
700 1 |a Albert, M H  |e verfasserin  |4 aut 
700 1 |a Damgaard, R B  |e verfasserin  |4 aut 
700 1 |a Fritsch, M  |e verfasserin  |4 aut 
700 1 |a Gyrd-Hansen, M  |e verfasserin  |4 aut 
700 1 |a Rensing-Ehl, A  |e verfasserin  |4 aut 
700 1 |a Vraetz, T  |e verfasserin  |4 aut 
700 1 |a Grimbacher, B  |e verfasserin  |4 aut 
700 1 |a Salzer, U  |e verfasserin  |4 aut 
700 1 |a Fuchs, I  |e verfasserin  |4 aut 
700 1 |a Ufheil, H  |e verfasserin  |4 aut 
700 1 |a Belohradsky, B H  |e verfasserin  |4 aut 
700 1 |a Hassan, A  |e verfasserin  |4 aut 
700 1 |a Cale, C M  |e verfasserin  |4 aut 
700 1 |a Elawad, M  |e verfasserin  |4 aut 
700 1 |a Strahm, B  |e verfasserin  |4 aut 
700 1 |a Schibli, S  |e verfasserin  |4 aut 
700 1 |a Lauten, M  |e verfasserin  |4 aut 
700 1 |a Kohl, M  |e verfasserin  |4 aut 
700 1 |a Meerpohl, J J  |e verfasserin  |4 aut 
700 1 |a Rodeck, B  |e verfasserin  |4 aut 
700 1 |a Kolb, R  |e verfasserin  |4 aut 
700 1 |a Eberl, W  |e verfasserin  |4 aut 
700 1 |a Soerensen, J  |e verfasserin  |4 aut 
700 1 |a von Bernuth, H  |e verfasserin  |4 aut 
700 1 |a Lorenz, M  |e verfasserin  |4 aut 
700 1 |a Schwarz, K  |e verfasserin  |4 aut 
700 1 |a Zur Stadt, U  |e verfasserin  |4 aut 
700 1 |a Ehl, S  |e verfasserin  |4 aut 
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