Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

著者: Iván K. Chinn, Olive S. Eckstein, Erin C. Peckham‐Gregory, Baruch R. Goldberg, Lisa R. Forbes, Sarah K. Nicholas, Emily M. Mace, Tiphanie P. Vogel, Harshal Abhyankar, María I. Díaz, Helen E. Heslop, Robert A. Krance, Caridad Martinez, Trung C. Nguyen, Dalia Bashir, Jordana Goldman, Asbjørg Stray‐Pedersen, Luis Alberto Pedroza, M. Cecilia Poli, Juan Carlos Aldave Becerra, Sean McGhee, Waleed Al–Herz, Aghiad Chamdin, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Tram N. Cao, Diana N. Hong, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Kenneth L. McClain, Carl E. Allen - Blood 2018 被引用: 199

< .05). Differences in survival did not correlate with genetic profile or extent of therapy. HLH should be conceptualized as a phenotype of critical illness characterized by toxic activation of immune cells from different underlying mechanisms. In most patients with HLH, targeted sequencing of fHLH genes remains insufficient for identifying pathogenic mechanisms. Whole-exome sequencing, however, may identify specific therapeutic opportunities and affect hematopoietic stem cell transplantation options for these patients.