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

@article{Speckmann2013XlinkedIO,
  title={X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.},
  author={Carsten Speckmann and Kai Lehmberg and Michael Heinrich Albert and Rune Busk Damgaard and Maria Fritsch and Mads Gyrd-Hansen and Anne Rensing-Ehl and Thomas Vraetz and Bodo Grimbacher and Ulrich Salzer and Irene Fuchs and Heike Ufheil and Bernd H. Belohradsky and Amal K. Hassan and Catherine M. Cale and Mamoun Elawad and Brigitte Strahm and Susanne Schibli and Melchior Lauten and M. Kohl and Joerg J Meerpohl and Burkhard Rodeck and Robert West Kolb and Wolfgang Eberl and J{\'o}hannes Martin L. S{\"o}rensen and Horst von Bernuth and Mario Lorenz and Klaus Schwarz and Udo zur Stadt and Sarah Ehl},
  journal={Clinical immunology},
  year={2013},
  volume={149 1},
  pages={
          133-41
        }
}
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… CONTINUE READING
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