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Autor:
Ilia Voskoboinik, Susan Russell, Michael F. Buckley, Edwin P. Kirk, Paul Gray, Kevin Y. T. Thia, Bella Shadur, Joseph A. Trapani, Kerri Gallagher, Richard Mitchell, Ian Andrews
Publikováno v:
Frontiers in Immunology
Frontiers in Immunology, Vol 8 (2017)
Frontiers in Immunology, Vol 8 (2017)
Bi-allelic null mutations affecting UNC13D, STXBP2 or STX11 result in defects of lymphocyte cytotoxic degranulation, and commonly cause familial haemophagocytic lymphohistiocytosis (FHL) in early life. Patients with partial loss of function are incre