László A, Kaiser G, Simon M
Acta Paediatr Acad Sci Hung. 1982;23(4):447-58.
HLA-ABC antigen typing was carried out in 4 homozygous patients and 10 family members from three families with bullous epidermolysis, 7 homozygous patients and 19 family members of six families with ichthyosis, and 4 homozygous patients and 8 family members of 4 families with ectodermal dysplasia. The type of heredity was established on the basis of genetical evidence and the clinical picture. In bullous epidermolysis cases autosomal recessive heredity was detected in two families with congenital bullous epidermolysis, and autosomal heredity in two families with dystrophic bullous epidermolysis. The HLA-Aw 24, B5 combination, which was thought to be significant in epidermolysis bullosa, was found in one, B5 alone in two, out of the four families. In congenital ichthyosis autosomal recessive heredity was detected in two families out of five. In one, X-linked recessive heredity was found, and in two families X-linked recessive heredity could be supposed. In three families out of the five with congenital ichthyosis, the A2, B18 antigen combination was found. In a family where two infants died from the most severe form of ichthyosis, epidermolysis and psoriasis also occurred. In this family two grandfathers were brothers, and one of the two was a carrier of the Aw24, B5 combination. In the case of ectodermal dysplasia, in one out of four families X-linked recessive heredity, in another autosomal recessive heredity was detected. In two families X-linked recessive heredity could be supposed as only the male children were affected and also on the basis of data in the literature. The HLA-A26, B38 antigen combination occurred in three of these four families.
对4例大疱性表皮松解症纯合子患者及来自3个家庭的10名家庭成员、7例鱼鳞病患者及来自6个家庭的19名家庭成员、4例外胚层发育不良患者及来自4个家庭的8名家庭成员进行了HLA - ABC抗原分型。根据遗传学证据和临床表现确定遗传类型。在大疱性表皮松解症病例中,在两个先天性大疱性表皮松解症家庭中检测到常染色体隐性遗传,在两个营养不良性大疱性表皮松解症家庭中检测到常染色体遗传。在4个家庭中,有1个家庭发现了被认为在大疱性表皮松解症中有意义的HLA - Aw24、B5组合,2个家庭仅发现了B5。在先天性鱼鳞病中,5个家庭中有2个检测到常染色体隐性遗传。在1个家庭中发现了X连锁隐性遗传,在2个家庭中可能存在X连锁隐性遗传。在5个先天性鱼鳞病家庭中的3个家庭中发现了A2、B18抗原组合。在一个有两名婴儿死于最严重形式鱼鳞病的家庭中,还出现了表皮松解症和银屑病。在这个家庭中,两位祖父是兄弟,其中一位是Aw24、B5组合的携带者。在外胚层发育不良的病例中,4个家庭中有1个检测到X连锁隐性遗传,另一个检测到常染色体隐性遗传。在2个家庭中,由于仅男性儿童受影响且根据文献数据,可能存在X连锁隐性遗传。在这4个家庭中的3个家庭中出现了HLA - A26、B38抗原组合。