Donato L, de la Salle H, Hanau D, Tongio M M, Oswald M, Vandevenne A, Geisert J
Department of Pediatrics, University Hospital of Strasbourg, France.
J Pediatr. 1995 Dec;127(6):895-900. doi: 10.1016/s0022-3476(95)70024-2.
Two siblings with pansinusitis, nasal polyps, and bronchiectasis were found to have histocompatibility lymphocyte antigen (HLA) class I antigen deficiency ("bare lymphocyte syndrome") and dysfunction of natural killer cells. Reduced class I cell surface expression resulted from a single mutation in the TAP2 gene, which is located in the class II region of the major histocompatibility complex and encodes subunit 2 of the class I peptide transporter. The defect was transmitted in an autosomal recessive manner. This deficiency did not lead to severe viral infections but was apparently associated with susceptibility to bacterial infections of the respiratory mucosae. We suggest that class I HLA typing should be systematically performed in children with unexplained bronchiectasis.
两名患有全鼻窦炎、鼻息肉和支气管扩张的兄弟姐妹被发现存在组织相容性淋巴细胞抗原（HLA）I类抗原缺陷（“裸淋巴细胞综合征”）以及自然杀伤细胞功能障碍。I类细胞表面表达减少是由TAP2基因的一个单基因突变所致，该基因位于主要组织相容性复合体的II类区域，编码I类肽转运体的亚基2。该缺陷以常染色体隐性方式遗传。这种缺陷并未导致严重的病毒感染，但显然与呼吸道黏膜细菌感染的易感性有关。我们建议，对于患有不明原因支气管扩张的儿童，应系统地进行HLA I类分型。
