Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

TitleGenetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Publication TypeJournal Article
Year of Publication2018
AuthorsChinn, IK, Eckstein, OS, Peckham-Gregory, EC, Goldberg, BR, Forbes, LR, Nicholas, SK, Mace, EM, Vogel, TP, Abhyankar, HA, Diaz, MI, Heslop, HE, Krance, RA, Martinez, CA, Nguyen, TC, Bashir, DA, Goldman, JR, Stray-Pedersen, A, Pedroza, LA, M Poli, C, Aldave-Becerra, JC, McGhee, SA, Al-Herz, W, Chamdin, A, Coban-Akdemir, ZH, Jhangiani, SN, Muzny, DM, Cao, TN, Hong, DN, Gibbs, RA, Lupski, JR, Orange, JS, McClain, KL, Allen, CE
Date Published2018 Jul 05

The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH), yet concern exists for their misapplication, resulting in suboptimal treatment of some patients. We sought to define the genomic spectrum and associated outcomes of a diverse cohort of children who met the HLH-2004 criteria. Genetic testing was performed clinically or through research-based whole-exome sequencing. Clinical metrics were analyzed with respect to genomic results. Of 122 subjects enrolled over the course of 17 years, 101 subjects received genetic testing. Biallelic familial HLH (fHLH) gene defects were identified in only 19 (19%) and correlated with presentation at younger than 1 year of age (

Alternate JournalBlood
PubMed ID29632024