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Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Jan 2021

Amirifar Parisa, Ranjouri Mohammad Reza, Abolhassani Hassan, Moeini Shad Tannaz, Almasi-Hashiani Amir, Azizi Gholamreza, Moamer Soraya, Aghamohammadi Asghar, Yazdani Reza

Abstract excerpt

BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive immune disorder that is caused by mutations in 6 different genes related to the formation and function of secretory lysosomes within cytotoxic T lymphocytes and natural killer (NK) cells. Thus, defect in these genes is associated with the accumulation of antigens due to defective cytotoxic function. FHL type 3 (FHL3)...

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PMID: 32679608
DOI: 10.1111/pai.13323

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