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Article

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.

Frontiers in immunology - 1 Jan 2021

Steen Erica A, Hermiston Michelle L, Nichols Kim E, Meyer Lauren K

Abstract excerpt

Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory disorder characterized by the inability to properly terminate an immune response. Familial HLH (FHLH) and related immune dysregulation syndromes are associated with mutations in the genes PRF1, UNC13D, STX11, STXBP2, LYST, AP3B1, and RAB27A, all of which are required for the assembly, exocytosis, and function of cytotoxic granules within CD8+ T cells...

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Share to Cell Degranulation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lymphohistiocytosis, Hemophagocytic

Share to Multifactorial Inheritance

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Share to T-Lymphocytes, Cytotoxic

Source

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Identifiers

PMID: 34868048
DOI: 10.3389/fimmu.2021.777851
PMCID: PMC8635482

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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