title: Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.
abstract: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition of uncontrolled immune activation leading to extreme inflammation. Primary HLH was once believed to be a disease that occurred only in infancy or young children, and was rarely diagnosed in adults. It is now understood that patients can develop primary HLH in their adolescence or adulthood. This study included 252 adolescent and adult patients with a clinical diagnosis of HLH from 35 general medical institutions across mainland China. All exons and 50 bp of flanking intronic sequence of six HLH-related genes (PRF1, UNC13D, STX11, STXBP2, SH2D1A, and BIRC4) were sequenced in these patients. We identified mutations in 18/252 (7.1%) of the patients, with changes in PRF1 being most common. Late-onset HLH often features viral infection and other predisposing factors. We conclude that late-onset primary HLH is not as rare as previously thought. Older patients should not be delayed to receive HLH-related genes testing when they are suspected with HLH.
authors.affiliation: Department of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
authors.forename: Yini
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
authors.forename: Zhao
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Wei
authors.affiliation: Department of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
authors.forename: Ran
authors.initials: R
authors.lastname: Tang
authors.affiliation: Department of Lymphoma, Institute of Hematology and Blood Diseases Hospital Chinese Academy of Medical Sciences, Tianjin, China.
authors.forename: Junyuan
authors.initials: J
authors.lastname: Qi
authors.affiliation: Department of Hematology, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, China.
authors.forename: Lihong
authors.initials: L
authors.lastname: Li
authors.affiliation: Department of Transplantation, The 309th Hospital of Chinese People's Liberation Army, Beijing, China.
authors.forename: Liping
authors.initials: L
authors.lastname: Ye
authors.affiliation: Department of Hematology, Peking University Third Hospital, Beijing, China.
authors.forename: Jijun
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Hematology, Shandong Jining First People's Hospital, Shandong, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Ye
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002681:China / Q000453:epidemiology; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007249:Inflammation / Q000235:genetics / Q000276:immunology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000453:epidemiology* / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D054353:Perforin / Q000235:genetics*; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: C510468:PRF1 protein, human; D054353:Perforin