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
Parisa AmirifarReza Yazdani

Abstract

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) accounts for nearly 30-40% of FHL, and its underlying reason is mutation in UNC13D gene which encodes Munc13-4 protein. For the first time, we aimed to systematically review clinical features, immunologic data, and genetic findings of patients with FHL3. We conducted electronic searches for English-language articles in PubMed, Web of Science, EMBASE, and Scopus databases to collect comprehensive records related to patients with UNC13D mutations. A total of 279 abstracts were initially reviewed for inclusion. Among them, 57 articles corresponding to 322 individual FHL3 patients fulfilled our selection criteria. Finally, 73 and 249 patients were considered as severe and mild feature groups, respectively. Our results confirmed that fever, hepatosplenomegaly, and hemophagocytosis are common clinical features in the disease. Moreover, reduce...Continue Reading

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Citations

Feb 23, 2021·British Journal of Haematology·Amy M Trottier, Lucy A Godley
Sep 28, 2021·The Journal of Allergy and Clinical Immunology. in Practice·Emily C McGowanNicholas L Rider

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