Frontiers in immunology, Vol. 9, Pages 188, 2021

PMID: 29527204

Hemophagocytic lymphohistiocytosis (HLH) is an immune dysregulation syndrome marked by immune hyperactivation, excessive cytokine release, and systemic inflammation. Familial HLH (FHL) is linked to mutations in the PRF1, UNC13D, STX11, and STXBP2 genes. This retrospective study analyzed 101 FHL patients in India over the past decade, finding that FHL2 and FHL3 accounted for 84% of cases. Clinical and biochemical parameters did not distinguish FHL subtypes, but perforin expression and degranulation assays were effective for diagnosis. Molecular analysis identified 76 mutations, including 39 novel ones. Survival was low (28%) regardless of mutation type or age of onset. This study highlights the genetic diversity and poor prognosis of FHL in India, emphasizing the importance of both mutational analysis and flow cytometry for diagnosis and validation of novel variants.

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  https://www.ncbi.nlm.nih.gov/pubmed/33746956