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familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate:A case report and review of the literature

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World Journal of Clinical Cases 2021年第21期9卷 6056-6066页

作者： Shao-Hua Bi Liang-Liang Jiang Li-Ying Dai Li-Li Wang Guang-Hui Liu Ru-Jeng Teng Division of Neonatology Department of PediatricsThe First Affiliated Hospital of Anhui Medical UniversityHefei 230022Anhui ProvinceChina Department of Neonatology Anhui Provincial Children's HospitalHefei 230022Anhui ProvinceChina Department of Pediatric Neurology Anhui Provincial Children's HospitalHefei 230022Anhui ProvinceChina Department of Pediatrics Medical College of WisconsinWauwatosaWI 53226United States

BACKGROUND familial hemophagocytic lymphohistiocytosis type 2(FHL2)is a rare genetic disorder presenting with fever,hepatosplenomegaly,and pancytopenia secondary to perforin-1(PRF1)***2 has been described in Chinese but usually presents after 1 year *** describe a female Chinese neonate with FHL2 secondary to compound heterozygous PRF1 mutation with symptom onset before 1 mo *** review Chinese FHL2 patients in the literature for *** SUMMARY A 15-d-old female neonate was referred to our hospital for persistent fever and thrombocytopenia with diffuse *** was born to a G5P3 mother at 39 wk and 4 d via cesarean section secondary to breech *** resuscitation was required at *** was described to be very sleepy with poor appetite since *** developed a fever up to 39.5°C at 7 d of ***,anemia,and thrombocytopenia were detected at a local medical facility CONCLUSION A literature review identified 75 Chinese FHL2 patients,with only five presenting in the first year of *** and frameshift mutations are the most common PRF1 mutations in Chinese,with 24.8%having c.1349C>T followed by 11.6%having *** c.658G>C mutation has only been reported once in the literature and our case suggests it can be pathogenic,at least in the presence of another pathogenic mutation such as c.1066C>T.

关键词： hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis Perforin-1 Neonate Compound heterozygous Case report

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Adult onset type 2 familial hemophagocytic lymphohistiocytosis with PRF1 c.65delC/c.163C>T compound heterozygous mutations: A case report

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World Journal of Clinical Cases 2021年第10期9卷 2289-2295页

作者： Xin-Yi Liu Yan-Bo Nie Xue-Jing Chen Xiao-Hui Gao Li-Jia Zhai Feng-Ling Min Department of Hematology The Affiliated Hospital of Yangzhou UniversityYangzhou UniversityYangzhou 225000Jiangsu ProvinceChina Gene Sequencing Laboratory Tianjin SINO-US-Diagnostics Co.LtdTianjin 300000China Flow Cytometry Laboratory Tianjin SINO-US-Diagnostics Co.LtdTianjin 300000China

BACKGROUND familial hemophagocytic lymphohistiocytosis(FHL)is a primary immunodeficiency disease caused by gene *** onset of FHL in adolescents and adults may lead clinicians to ignore or even misdiagnose the *** 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 *** SUMMARY We report a case of a 27-year-old male patient with FHL2,who was admitted with a persistent fever and *** next-generation sequencing technology of hemophagocytic lymphohistiocytosis(HLH)-related genes,we found compound heterozygous mutations of PRF1:c.65delC(***22Argfs*29)(frameshift mutation,paternal)and c.163C>T(***55Cys)(missense mutation,maternal).Although he did not receive hematopoietic stem cell transplantation,the patient achieved complete remission after receiving HLH-2004 treatment *** date,the patient has stopped taking drugs for 15 mo,is in a stable condition,and is under follow-up *** The delayed onset of FHL2 may be related to the PRF1 mutation type,pathogenic variation pattern,triggering factors,and the temperature sensitivity of some PRF1 *** individual,the detailed reason for the delay in the onset of FHL warrants further investigation.

关键词： familial hemophagocytic lymphohistiocytosis Perforin PRF1 mutation Lateonset Case report

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