Good prognosis of adult hemophagocytic lymphohistiocytosis (HLH) associated with the germline HAVCR2 mutation

Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal systemic condition caused by hyperactivation of macrophages, cytotoxic T cells and natural killer (NK) cells, which release excessive cytokines leading to inflammation and organ damage.1, 2 HLH can be categorized as primary HLH resulting from an inherited defect, while secondary HLH is caused by malignancies, infections, autoimmune diseases or unidentified causes. Primary or familial HLH occurs in the presence of an underlying predisposing genetic defect in immune function including mutation in perforin 1 (PRF1), UNC-13 homolog D (UNC13D), RAS-related protein Rab-27A (RAB27A), syntaxin 11 (STX11), and syntaxin binding protein 2 (STXBP2) genes.

Source: Experimental Hematology - July 18, 2023 Category: Hematology Authors: Pitchayut Boonyabaramee, Chantana Polprasert, Sirorat Kobbuaklee, Rung Settapiboon, Saranya Pongudom, Saruta Faknuam, Sunisa Kongkiatkamon, Kitsada Wudhikarn, Ponlapat Rojnuckarin Tags: Brief Communication Source Type: research