XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

X-linked inhibitor of apoptosis (XIAP) deficiency, caused by BIRC4 mutations, is described to cause X-linked lymphoproliferative disease (XLP) phenotypes. However, compared with XLP caused by SLAM-Associated Protein deficiency (SH2D1A mutation), XIAP deficiency was originally observed to be associat...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Marsh, Rebecca A., Madden, Lisa, Kitchen, Brenda J., Mody, Rajen, McClimon, Brad, Jordan, Michael B., Bleesing, Jack J., Zhang, Kejian, Filipovich, Alexandra H.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: American Society of Hematology 2010
विषय:
Immunobiology
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2938130/
https://ncbi.nlm.nih.gov/pubmed/20489057
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-01-256099
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