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Loss\u2010of\u2010function mutations in UNC13D result in immune dysregulation syndromes, most notably familial hemophagocytic lymphohistiocytosis (fHLH, also referred to as FHL). This review provides a comprehensive overview of UNC13D, including its structural characteristics, biological functions, and spectrum of pathogenic variants. We summarize the mechanistic roles of Munc13\u20104 in granule\u2010mediated cytotoxicity and examine the clinical correlations between UNC13D mutations and fHLH type 3 (FHL3). Furthermore, we discuss emerging evidence linking UNC13D dysfunction to a broader range of diseases, highlighting its clinical relevance and potential as both a diagnostic biomarker and therapeutic target. Overall, this review aims to bridge the gap between molecular mechanisms and clinical translation in UNC13D\u2010related disorders.<\/jats:p>","DOI":"10.1111\/sji.70117","type":"journal-article","created":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T03:09:17Z","timestamp":1777086557000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>UNC13D<\/scp>\n                    in Familial Hemophagocytic Lymphohistiocytosis and Beyond: Functional Mechanisms, Genetic Variants, Multisystem Disease Spectrum and Clinical Implications"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-9653-365X","authenticated-orcid":false,"given":"Ziqian","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing 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