RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review

References

• Shi LH, Tian L, Huang S, et al. Clinical features of phagocytic syndrome in children and the significance of genetic testing. Chin J Pract Pediatr. 2019;34(6):449–452.
   Google Scholar
• Chen X, Wang F, Zhang Y, et al. Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP. Clin Genet. 2018;94(2):200–212. doi:10.1111/cge.13363
   PubMed Web of Science ®Google Scholar
• Jiang ZF, Shen KL, Shen Y, et al. Chu Fu tang practical pediatrics. 8th ed; 2018. ISBN 978-7-117-19978-0/R-19979.
   Google Scholar
• Rousselin A, Alavi Z, Le Moigne E, et al. Hemophagocytic syndrome in pregnancy: case report, diagnosis, treatment, and prognosis. Clin Case Rep. 2017;5(11):1756–1764. doi:10.1002/ccr3.1172
   PubMed Web of Science ®Google Scholar
• Luo ZB, Tang YM. Research progress of primary phagocytic syndrome. Chin J Pediatr. 2014;52(4):267–270.
   Google Scholar
• Sevim H, Kocaefe YÇ, Onur MA, Uçkan-çetinkaya D, Gürpınar ÖA. Bone marrow derived mesenchymal stem cells ameliorate inflammatory response in an in vitro model of familial hemophagocytic lymphohistiocytosis 2. Stem Cell Res Ther. 2018;9(1):198. doi:10.1186/s13287-018-0941-y
   Web of Science ®Google Scholar
• Mian A, Kumari K, Kaushal S, et al. Fatal familial hemophagocytic lymphohistiocytosis with perforin gene (PRF1) mutation and EBV-associated T-cell lymphoproliferative disorder of the thyroid. Autops Case Rep. 2019;9(3):e2019101. doi:10.4322/acr.2019.101
   Google Scholar
• Ding Q, Guo X, Li Q. [Analysis of PRF1gene variant in a child with late-onset familial hemophagocytic lymphohistiocytosis type 2 and severe central nervous system disease]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019;36(6):592–594. Chinese. doi:10.3760/cma.j.issn.1003-9406.2019.06.015
   Google Scholar
• Viñas-Giménez L, Padilla N, Batlle-Masó L, et al. FHLdb: a comprehensive database on the molecular basis of familial hemophagocytic lymphohistiocytosis. Front Immunol. 2020;31(11):107. doi:10.3389/fimmu.2020.00107
   Web of Science ®Google Scholar
• Zhang J, Sun Y, Shi X, et al. Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China. Orphanet J Rare Dis. 2020;15(1):112. doi:10.1186/s13023-020-01390-z
   Web of Science ®Google Scholar
• Pérez-Torras S, Mata-Ventosa A, Drögemöller B, et al. Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure. Biochim Biophys Acta Mol Basis Dis. 2019;1865(6):1182–1191. doi:10.1016/j.bbadis.2019.01.013
   Web of Science ®Google Scholar
• Fager Ferrari M, Leinoe E, Rossing M, et al. Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding. Platelets. 2018;29(1):56–64. doi:10.1080/09537104.2017.1293808
   PubMed Web of Science ®Google Scholar
• Benson LA, Li H, Henderson LA, et al. Pediatric CNS-isolated hemophagocytic lymphohistiocytosis. Neurol Neuroimmunol Neuroinflamm. 2019;6(3):e560. doi:10.1212/NXI.0000000000000560
   PubMed Web of Science ®Google Scholar
• Mhatre S, Madkaikar M, Desai M, Ghosh K. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India. Blood Cells Mol Dis. 2015;54(3):250–257. doi:10.1016/j.bcmd.2014.11.023
   Web of Science ®Google Scholar
• Sun SW, Guo X, Zhu YP, et al. Clinical phenotype and gene mutation analysis of a familial family with phagocytic syndrome. Chin J Med Gene. 2014;31(05):570–573. doi:10.3760/cma.j.issn.1003-9406.2014.01.006
   Google Scholar
• Sheth J, Patel A, Shah R, Bhavsar R, Trivedi S, Sheth F. Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - A case report with a review. BMC Pediatr. 2019;19(1):73. doi:10.1186/s12887-019-1444-4
   Web of Science ®Google Scholar
• Bordbar MR, Modarresi F, Farazi Fard MA, Dastsooz H, Shakib Azad N, Faghihi MA. A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis. BMC Med Genet. 2017;18(1):49. doi:10.1186/s12881-017-0404-9
   Web of Science ®Google Scholar
• Huang JB, Wang J, Jiang L, et al. Late fetal onset of familial phagocytic syndrome - A case report. Chin J Exp Hematol. 2017;25(6):1825–1828. doi:10.7534/j.issn.1009-2137.2017.06.045
   Google Scholar
• Xu XJ, Wang HS, Ju XL, et al.; Histiocytosis Study Group of the Chinese Pediatric Society. Clinical presentation and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in China: a retrospective multicenter study. Pediatr Blood Cancer. 2017;64(4):e26264. doi:10.1002/pbc.26264
   Web of Science ®Google Scholar
• Kamoun F, Hsairi M, Grandin V, Ben Ameur S, De Saint Basile G, Hachicha M. Familial haemophagocytosis lymphohisticytosis type 3: a case report. Arch Pediatr. 2017;24(1):33–35. doi:10.1016/j.arcped.2016.10.021
   Web of Science ®Google Scholar
• Del Giudice E, Savoldi G, Notarangelo LD, et al. Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis. Acta Paediatr. 2003;92(3):398–401. doi:10.1111/j.1651-2227.2003.tb00566.x
   Web of Science ®Google Scholar
• Ishii E, Ueda I, Shirakawa R, et al. Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. Blood. 2005;105(9):3442–3448. doi:10.1182/blood-2004-08-3296
   Web of Science ®Google Scholar
• Clementi R, Zur Stadt U, Savoldi G. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J Med Genet. 2001;38(9):643–646. doi:10.1136/jmg.38.9.643
   Web of Science ®Google Scholar
• Zur Stadt U, Beutel K, Kolberg S, et al. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat. 2006;27(1):62–68. doi:10.1002/humu.20274
   Web of Science ®Google Scholar
• Marcenaro S, Gallo F, Martini S, et al. Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. Blood. 2006;108(7):2316–2323. doi:10.1182/blood-2006-04-015693
   PubMed Web of Science ®Google Scholar
• Bryceson YT, Rudd E, Zheng C, et al. Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood. 2007;110(6):1906–1915. doi:10.1182/blood-2007-02-074468
   PubMed Web of Science ®Google Scholar
• Göransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, et al. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet. 2001;68(3):590–597. doi:10.1086/318796
   PubMed Web of Science ®Google Scholar
• Horne A, Ramme KG, Rudd E, et al. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Haematol. 2008;143(1):75–83. doi:10.1111/j.1365-2141.2008.07315.x
   Web of Science ®Google Scholar
• Chia J, Yeo KP, Whisstock JC, Dunstone MA, Trapani JA, Voskoboinik I. Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. Proc Natl Acad Sci U S A. 2009;106(24):9809–9814. doi:10.1073/pnas.0903815106
   Web of Science ®Google Scholar
• Nagai K, Yamamoto K, Fujiwara H, et al. Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. PLoS One. 2010;5(11):e14173.
   Web of Science ®Google Scholar
• Suga N, Takada H, Nomura A, et al. Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan. Br J Haematol. 2002;116(2):346–349. doi:10.1046/j.1365-2141.2002.03266.x
   Web of Science ®Google Scholar
• Ueda I, Morimoto A, Inaba T, et al. Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan. Br J Haematol. 2003;121(3):503–510. doi:10.1046/j.1365-2141.2003.04298.x
   Web of Science ®Google Scholar
• Wang JS, Wang Z, Wu L, Chen X, Feng C. Etiology analysis of 38 cases of hemophagocytic syndrome. Chin j Exp Hematol. 2010;18(05):1316–1320.
   Google Scholar
• Zhizhuo H, Junmei X, Yuelin S, et al. Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2012;58(3):410–414. doi:10.1002/pbc.23216
   Web of Science ®Google Scholar
• Chia J, Thia K, Brennan AJ, et al. Fatal immune dysregulation due to a gain of glycosylation mutation in lymphocyte perforin. Blood. 2012;119(7):1713–1716. doi:10.1182/blood-2011-08-374355
   Web of Science ®Google Scholar
• Sumegi J, Nestheide SV, Barnes MG, et al. Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis. Blood. 2013;121(7):e14–24. doi:10.1182/blood-2012-05-425769
   Web of Science ®Google Scholar
• Seo JY, Song JS, Lee KO, et al.; Korea Histiocytosis Working Party. Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea. Ann Hematol. 2013;92(3):357–364. doi:10.1007/s00277-012-1628-6
   Web of Science ®Google Scholar
• Dias C, McDonald A, Sincan M, et al. Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. Eur J Hum Genet. 2013;21(11):1232–1239. doi:10.1038/ejhg.2013.20
   Web of Science ®Google Scholar
• Wada T, Sakakibara Y, Nishimura R, et al. Down-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations. Hum Immunol. 2013;74(12):1579–1585. doi:10.1016/j.humimm.2013.09.001
   Web of Science ®Google Scholar
• Zhang K, Chandrakasan S, Chapman H, et al. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood. 2014;124(8):1331–1334. doi:10.1182/blood-2014-05-573105
   Web of Science ®Google Scholar
• Mhatre S, Madkaikar M, Jijina F, Ghosh K. Unusual clinical presentations of familial hemophagocytic lymphohistiocytosis type-2. J Pediatr Hematol Oncol. 2014;36(8):e524–7. doi:10.1097/MPH.0000000000000102
   Web of Science ®Google Scholar
• Hussein AA, Hamadah T, Qandeel M, et al. Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation. Pediatr Blood Cancer. 2014;61(12):2313–2315. doi:10.1002/pbc.25166
   Web of Science ®Google Scholar
• Abdalgani M, Filipovich AH, Choo S, et al. Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations. Blood. 2015;126(15):1858–1860. doi:10.1182/blood-2015-06-648659
   PubMed Web of Science ®Google Scholar
• Romero CA, Sánchez IP, Gutierrez-Hincapié S, et al. A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis. J Clin Immunol. 2015;35(5):501–511. doi:10.1007/s10875-015-0169-x
   Web of Science ®Google Scholar
• Willenbring RC, Ikeda Y, Pease LR, Johnson AJ. Human perforin gene variation is geographically distributed. Mol Genet Genomic Med. 2018;6(1):44–55. doi:10.1002/mgg3.344
   Web of Science ®Google Scholar
• Willenbring RC, Johnson AJ. Finding a balance between protection and pathology: the dual role of perforin in human disease. Int J Mol Sci. 2017;18(8):1608. doi:10.3390/ijms18081608
   Web of Science ®Google Scholar
• Liu C, Li M, Wu X, Yao X, Zhao L. Type 2 familial hemophagocytic lymphohistiocytosis in half brothers: a case report. Medicine. 2018;97(30):e11577. doi:10.1097/MD.0000000000011577
   Web of Science ®Google Scholar
• Almalky MA, Saleh SHA, Baz EG, Fakhr AE. Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study. Pan Afr Med J. 2020;27(36):354.
   Google Scholar
• Sato H, Kawasaki N, Kawasaki M, et al. Three consecutive cases of familial hemophagocytic lymphohistiocytosis, including a case due to maternal uniparental disomy. J Pediatr Hematol Oncol. 2020;42(8):e819–e821. doi:10.1097/MPH.0000000000001681
   Web of Science ®Google Scholar
• Shabrish S, Kelkar M, Yadav RM, et al. The spectrum of clinical, immunological, and molecular findings in familial hemophagocytic lymphohistiocytosis: experience from India. Front Immunol. 2021;5(12):612583. doi:10.3389/fimmu.2021.612583
   Web of Science ®Google Scholar
• Godby RC, Kraemer RR, May J, et al. Co-occurrence of familial hemophagocytic lymphohistiocytosis Type 2 and chronic active Epstein-Barr virus in adulthood. Am J Med Sci. 2021;361(3):388–393. doi:10.1016/j.amjms.2020.10.004
   Web of Science ®Google Scholar
• Ahmari AA, Alsmadi O, Sheereen A, et al. Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis. Blood Res. 2021;56(2):86–101. doi:10.5045/br.2021.2020308
   Web of Science ®Google Scholar
• Liu XY, Nie YB, Chen XJ, Gao XH, Zhai LJ, Min FL. Adult onset type 2 familial hemophagocytic lymphohistiocytosis with PRF1 c.65delC/c.163C>T compound heterozygous mutations: a case report. World J Clin Cases. 2021;9(10):2289–2295. doi:10.12998/wjcc.v9.i10.2289
   Web of Science ®Google Scholar