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Article

Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3.

Clinical immunology (Orlando, Fla.) - 1 Sept 2022

Tomomasa Dan, Hiejima Eitaro, Miyamoto Takayuki, Tanita Kay, Matsuoka Masaki, Niizato Daiki, Mitsuiki Noriko, Isoda Takeshi, Yasumi Takahiro, van Zelm Menno C, Morio Tomohiro, Kanegane Hirokazu

Abstract excerpt

Familial hemophagocytic lymphohistiocytosis type 3 is a fatal inborn error of immunity due to abnormal cytotoxic activity of T and NK cells and is caused by variants in UNC13D, which encodes Munc13-4. One published case was reported to carry a tandem duplication of UNC13D exons 7-12, and we here present another case with the exact same duplication breakpoints. The patient carried the tandem duplication from...

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Identifiers

PMID: 36041693
DOI: 10.1016/j.clim.2022.109104

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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