Case report of haploidentical hematopoietic stem cell transplantation in the treatment of haemophagocytic lymphohistiocytosis secondary to Griscelli syndrome type Ⅱ

VernacularTitle:单倍体造血干细胞移植治疗Ⅱ型格里塞利综合征继发性噬血细胞综合征1例
Author: Xiaying ZHAO ; Shaoyan HU ; Peifang XIAO ; Yanhua YAO ; Defei ZHENG ; Jian WANG
From: Chinese Journal of Applied Clinical Pediatrics 2021;36(3):219-221
CountryChina
Language:Chinese
Abstract: Griscelli syndrome type Ⅱ (GS2) is a rare disease, and patients with GS2 are susceptible to secondary haemophagocytic lymphohistiocytosis (HLH). GS2 accompanied by secondary HLH has a dangerous clinical course, high mortality, and a high miss-diagnosis rate.In this paper, the pathogenesis and prognosis of a case confirmed as GS2 with secondary HLH by gene screening were reported, so as to improve diagnosis and treatment of this disease.The patient had clinical manifestations of silver hair and eye lashes, recurrent pulmonary infection, contiuning high fever, significantly increased ferroprotein levels and decreased fibrinogen levels.Besides, RAB27A gene homozygous mutations were found in the patient, originating from her parents (p.P126Qf3*3 frameshift mutation). This finding confirmed the diagnosis of GS2.The patient underwent transplantation of marrow stem cells from her father since the father-daughter HLA was 7/10.The follow-up results showed that the patient was still alive and healthy 2 years after transplantation.