Department of Pediatrics, Christian Medical College, Vellore, Tamilnadu, India.
Indian Pediatr. 2012 Jun;49(6):488-90. doi: 10.1007/s13312-012-0094-5.
Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare autosomal recessive disorder. Diagnosis is established in presence of genetic mutation or positive family history in one of the siblings. Common genetic mutations associated with FHL are mutations in gene PRF1 (also known as FHL 2), UNC13D (FHL 3) and STX11 (FHL 4). Recently mutation in STXBP2 encoding syntaxin binding protein 2 (Munc 18 -2) has been found to be associated with FHL type 5. Here we describe the first reported Indian patient with homozygous mutation in STX BP2 gene (c1697 G > A resulting in amino acid change p.G566D) causing FHL 5.
家族性噬血细胞性淋巴组织细胞增生症（FHL）是一种罕见的常染色体隐性遗传病。在兄弟姐妹中存在基因突变或阳性家族史时，即可确诊。与 FHL 相关的常见基因突变有 PRF1 基因（也称为 FHL2）、UNC13D（FHL3）和 STX11（FHL4）的突变。最近，编码突触结合蛋白 2（Munc18-2）的 STXBP2 基因突变与 FHL 5 型相关。在此，我们描述了首例报道的印度纯合性 STXBP2 基因突变（c1697G＞A 导致氨基酸改变 p.G566D）导致的 FHL5 型患者。
