Identification of germline variants in adults with hemophagocytic lymphohistiocytosis
Peter G. Miller, Abhishek Niroula, John Ceremsak, Christopher J. Gibson, Martin S. Taylor, Sebastian Birndt, Florian Perner, Jon Arnason, Adam S. Sperling, Mridul Agrawal, Alison M. Schram, Sarah Nikiforow, Germán Pihán, Robert P. Hasserjian, Jon C. Aster, Paul La Rosée, Elizabeth A. Morgan, Nancy Berliner, Benjamin L. Ebert
Abstract
Key Points 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.
Topics & Concepts
GermlineHemophagocytic lymphohistiocytosisIdentification (biology)BiologyGeneticsGeneGermline mutationFunction (biology)Computational biologyMutationImmunologyMedicineInternal medicineDiseaseBotanyAutoimmune and Inflammatory Disorders ResearchNeurogenetic and Muscular Disorders ResearchImmunodeficiency and Autoimmune Disorders