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
Beschreibung
Zusammenfassung:© 2013.
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
Beschreibung:Date Completed 12.11.2013
Date Revised 17.09.2013
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2013.07.004