Rister M, Böttcher K, Gramer H
Klin Padiatr. 1978 Mar;190(2):203-8.
A case of a boy is reported with an antibody deficiency syndrome type Bruton leading to a phenocopy of a homozygote Pelger's nuclear anomaly at the age of 10 months. The dominant inheritance and the absence of the anomaly in the peripheral blood of the parents and a sister support the presence of a phenocopy of this leukocyte anomaly. The recurrent bacterial infections are probably the cause of this phenocopy, since the substitution with gammaglobulins did not control the severe antibody deficiency syndrome.
报告了一例患有布鲁顿氏抗体缺陷综合征的男孩病例,该男孩在10个月大时出现了纯合子佩尔格核异常的表型模拟。显性遗传以及父母和一个姐姐外周血中不存在该异常,支持了这种白细胞异常表型模拟的存在。反复的细菌感染可能是这种表型模拟的原因,因为用丙种球蛋白替代并不能控制严重的抗体缺陷综合征。