Identification of germline variants in adults with hemophagocytic lymphohistiocytosis.

Miller PG, Niroula A, Ceremsak JJ, Gibson CJ, Taylor MS, Birndt S, Perner F, Arnason J, Sperling AS, Agrawal M, Schram AM, Nikiforow S, Pihan G, Hasserjian RP, Aster JC, La Rosée P, Morgan EA, Berliner N, Ebert BL

Blood Adv 4 (5) 925-929 [2020-03-10; online 2020-03-10]

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.

Abhishek Niroula

DDLS Fellow

PubMed 32150605

DOI 10.1182/bloodadvances.2019001272

Crossref 10.1182/bloodadvances.2019001272

pmc: PMC7065469
pii: S2473-9529(20)31457-9

Publications 9.5.0