Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
Journal
Blood
ISSN
0006-4971
1528-0020
Date Issued
2018
Author(s)
Ivan 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 A. Abhyankar
Maria I. Diaz
Helen E. Heslop
Robert A. Krance
Caridad A. Martinez
Trung C. Nguyen
Dalia A. Bashir
Jordana R. Goldman
Asbjørg Stray-Pedersen
Luis A. Pedroza
Juan C. Aldave-Becerra
Sean A. McGhee
Waleed Al-Herz
Aghiad Chamdin
Zeynep H. 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
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Abstract
<jats:title>Key Points</jats:title>
<jats:p>Whole-exome sequencing may identify specific therapeutic opportunities for patients with HLH. HLH should be conceptualized as a critical illness phenotype driven by toxic activation of immune cells from different underlying mechanisms.</jats:p>
<jats:p>Whole-exome sequencing may identify specific therapeutic opportunities for patients with HLH. HLH should be conceptualized as a critical illness phenotype driven by toxic activation of immune cells from different underlying mechanisms.</jats:p>
Subjects
t-cell
;
activation syndrome
;
mutations
;
deficiency
;
humans
;
rab27a
;
immunodeficiency
;
susceptibility
;
dysfunction
;
etoposide