Identification of germline variants in adults with hemophagocytic lymphohistiocytosis

Blood Adv. 2020 Mar 10;4(5):925-929. doi: 10.1182/bloodadvances.2019001272.

Peter G Miller^{1

2

3}, Abhishek Niroula^{1

3}, John J Ceremsak⁴, Christopher J Gibson¹, Martin S Taylor⁵, Sebastian Birndt⁶, Florian Perner¹, Jon Arnason⁷, Adam S Sperling^{1

3}, Mridul Agrawal^{1

2}, Alison M Schram⁸, Sarah Nikiforow¹, German Pihan⁷, Robert P Hasserjian⁵, Jon C Aster⁹, Paul La Rosée¹⁰, Elizabeth A Morgan⁹, Nancy Berliner², Benjamin L Ebert^{1

3

11}

¹ Department of Medical Oncology, Dana-Farber Cancer Institute, and.
² Division of Hematology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
³ Broad Institute of MIT and Harvard, Cambridge, MA.
⁴ Harvard-MIT Program in Health Sciences and Technology, and.
⁵ Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
⁶ Klinik für Innere Medizin II, Universitätsklinikum Jena, Jena, Germany.
⁷ Department of Medical Oncology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.
⁸ Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
⁹ Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
¹⁰ Klinik für Innere Medizin II, Schwarzwald-Baar-Klinikum, Villingen-Schwenningen, Germany; and.
¹¹ Howard Hughes Medical Institute, Dana-Farber Cancer Institute, Boston, MA.

Abstract

Some germline variants are predicted to disrupt protein function in HLH-associated genes.
Such variants are neither enriched in adult-onset HLH nor associated with specific clinical or laboratory features of HLH.