Adult onset type 2 familial hemophagocytic lymphohistiocytosis with PRF1 c.65delC/c.163C>T compound heterozygous mutations: A case report |
| |
Authors: | Xin-Yi Liu Yan-Bo Nie Xue-Jing Chen Xiao-Hui Gao Li-Jia Zhai Feng-Ling Min |
| |
Institution: | Xin-Yi Liu, Xiao-Hui Gao, Li-Jia Zhai, Feng-Ling Min, Department of Hematology, The Affiliated Hospital of Yangzhou University, Yangzhou University, Yangzhou 225000, Jiangsu Province, ChinaYan-Bo Nie, Gene Sequencing Laboratory, Tianjin SINO-US-Diagnostics Co.Ltd, Tianjin 300000, ChinaXue-Jing Chen, Flow Cytometry Laboratory, Tianjin SINO-US-Diagnostics Co.Ltd, Tianjin 300000, China |
| |
Abstract: | BACKGROUNDFamilial hemophagocytic lymphohistiocytosis (FHL) is a primary immunodefici-ency disease caused by gene defects. The onset of FHL in adolescents and adults may lead clinicians to ignore or even misdiagnose the disease. To the best of our knowledge, this is the first report to detail the clinical features of type 2 FHL (FHL2) with compound heterozygous perforin (PRF1) defects involving the c.163C>T mutation, in addition to correlation analysis and a literature review.CASE SUMMARYWe report a case of a 27-year-old male patient with FHL2, who was admitted with a persistent fever and pancytopenia. Through next-generation sequencing technology of hemophagocytic lymphohistiocytosis (HLH)-related genes, we found compound heterozygous mutations of PRF1: c.65delC (p.Pro22Argfs*29) (frameshift mutation, paternal) and c.163C>T (p.Arg55Cys) (missense mutation, maternal). Although he did not receive hematopoietic stem cell transplantation, the patient achieved complete remission after receiving HLH-2004 treatment protocol. To date, the patient has stopped taking drugs for 15 mo, is in a stable condition, and is under follow-up observation.CONCLUSIONThe delayed onset of FHL2 may be related to the PRF1 mutation type, pathogenic variation pattern, triggering factors, and the temperature sensitivity of some PRF1 mutations. For individual, the detailed reason for the delay in the onset of FHL warrants further investigation. |
| |
Keywords: | Familial hemophagocytic lymphohistiocytosis Perforin PRF1 mutation Late-onset Case report |
本文献已被 维普 等数据库收录! |
| 点击此处可从《》浏览原始摘要信息 |
|