Siccardi A G, Bianchi E, Calligari A, Clivio A, Fortunato A, Magrini U, Sacchi F
Helv Paediatr Acta. 1978 Nov;33(4-5):401-12.
A 4-year-old boy with recurrent infections and his clinically healthy father showed a severe, isolated defect in bactericidal activity of peripheral neutrophil leukocytes (the mother and the only sister were normal). Lymph nodes, spleen and liver of the child presented a massive infiltration by macrophages. Such infiltration and the segmentary albinism of the hair resemble traits of the Chediak-Higashi syndrome, but some of the most relevant traits of this syndrome are absent, since all other neutrophil functions were normal in our patient.
一名4岁反复感染的男孩及其临床健康的父亲表现出外周中性粒细胞杀菌活性严重且孤立的缺陷(母亲和唯一的妹妹正常)。该患儿的淋巴结、脾脏和肝脏出现巨噬细胞大量浸润。这种浸润以及头发的节段性白化病类似于Chediak-Higashi综合征的特征,但该综合征一些最相关的特征并不存在,因为我们的患者所有其他中性粒细胞功能均正常。