Article
A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency.
Cytometry. Part B, Clinical cytometry - 1 Sept 2009
Marsh Rebecca A, Villanueva Joyce, Zhang Kejian, Snow Andrew L, Su Helen C, Madden Lisa, Mody Rajen, Kitchen Brenda, Marmer Dan, Jordan Michael B, Risma Kimberly A, Filipovich Alexandra H, Bleesing Jack J
Abstract excerpt
BACKGROUND: Deficiency of X-linked inhibitor of apoptosis (XIAP), caused by BIRC4 gene mutations, is the second known cause of X-linked lymphoproliferative disease (XLP), a rare primary immunodeficiency that often presents with life-threatening hemophagocytic lymphohistiocytosis (HLH). Rapid diag...
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