Ⅱ型格里塞利综合征作为罕见病，容易继发噬血细胞综合征，临床进程凶险，病死率高，且易漏诊。本研究通过报道苏州大学附属儿童医院收治1例经过基因筛查明确诊断的患儿的发病过程和预后转归，提高了临床医师对此疾病的诊治水平。患儿临床表现为银色头发、睫毛，反复肺部感染，高热不退，铁蛋白明显升高，纤维蛋白原下降。基因检测结果示患儿n RAB27A基因发生纯合子突变，分别来自于父母，p.P126Qf3*3移码突变，符合Ⅱ型格里塞利综合征诊断。父女人类白细胞抗原(HLA)为7/10，遂予患儿来自于父亲的骨髓造血干细胞移植，移植后2年随访，患儿健康存活中。n “,”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, n 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.n