Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
Iván K. Chinn(Baylor College of Medicine), Olive S. Eckstein(Baylor College of Medicine), Erin C. Peckham‐Gregory(Baylor College of Medicine), Baruch R. Goldberg(Baylor College of Medicine), Lisa R. Forbes(Baylor College of Medicine), Sarah K. Nicholas(Baylor College of Medicine), Emily M. Mace(Baylor College of Medicine), Tiphanie P. Vogel(Baylor College of Medicine), Harshal Abhyankar(Texas Children's Hospital), María I. Díaz(Texas Children's Hospital), Helen E. Heslop(Baylor College of Medicine), Robert A. Krance(Baylor College of Medicine), Caridad Martinez(Baylor College of Medicine), Trung C. Nguyen(Michael E. DeBakey VA Medical Center), Dalia Bashir(Michael E. DeBakey VA Medical Center), Jordana Goldman(Baylor College of Medicine), Asbjørg Stray‐Pedersen(Oslo University Hospital), Luis Alberto Pedroza(Universidad San Francisco de Quito), M. Cecilia Poli(Universidad del Desarrollo), Juan Carlos Aldave Becerra(Hospital Nacional Cayetano Heredia), Sean McGhee(Stanford University), Waleed Al–Herz(Kuwait University), Aghiad Chamdin(Michigan State University), Zeynep Coban‐Akdemir, Shalini N. Jhangiani(Baylor College of Medicine), Donna M. Muzny(Baylor College of Medicine), Tram N. Cao(Baylor College of Medicine), Diana N. Hong(Baylor College of Medicine), Richard A. Gibbs(Baylor College of Medicine), James R. Lupski(Baylor College of Medicine), Jordan S. Orange(Baylor College of Medicine), Kenneth L. McClain(Baylor College of Medicine), Carl E. Allen(Baylor College of Medicine)
Cited by 197Open Access
Abstract
< .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.
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