Dantas Vera Maria, Valle Cassandra Teixeira, de Oliveira Roberta Piccin, Bezerra Mylena Taíse Azevedo L, do Amaral Cleia Teixeira, Brandão Raissa Anielle S, Cerqueira Maia Jussara M, Petta Tirzah Braz
Department of Pediatrics, Pediatric Immunology Division of Onofre Lopes University Hospital, Federal University of Rio Grande do Norte, Natal, Brazil.
Pediatric Hematology Division of Onofre Lopes University Hospital, Federal University of Rio Grande do Norte, Natal, Brazil.
Front Pediatr. 2021 Jun 24;9:633996. doi: 10.3389/fped.2021.633996. eCollection 2021.
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, potentially fatal autosomal-recessive immunodeficiency, and mutations have been associated with FHL type 5 (FHL-5). Here, we report a case of a 2-year-old boy who presented with recurrent fever, hepatosplenomegaly, pancytopenia, hyperferritinemia, and hypofibrinogenemia since 4 months of age. His genetic analysis revealed a compound heterozygosity of the gene with a described pathogenic mutation, c.1247-1G>C (splicing acceptor site), harbored by his father and a likely pathogenic variant of uncertain significance (VUS), c.704G>A (p.Arg235Gln), harbored by his mother. He was diagnosed as compound heterozygous for FHL-5 and was treated with the HLH-2004 protocol. Since treatment, this patient has been in remission, and he is being evaluated for a hematopoietic stem cell transplantation (HSCT).
家族性噬血细胞性淋巴组织细胞增生症（FHL）是一种罕见的、潜在致命的常染色体隐性免疫缺陷病，突变与5型FHL（FHL-5）相关。在此，我们报告一例2岁男孩病例，该男孩自4个月大起就出现反复发热、肝脾肿大、全血细胞减少、高铁蛋白血症和低纤维蛋白原血症。他的基因分析显示该基因存在复合杂合性，父亲携带已报道的致病性突变c.1247-1G>C（剪接受体位点），母亲携带一个意义不确定的可能致病性变异（VUS）c.704G>A（p.Arg235Gln）。他被诊断为FHL-5复合杂合子，并按照HLH-2004方案进行治疗。自治疗以来，该患者一直处于缓解期，目前正在接受造血干细胞移植（HSCT）评估。
