SYNDROME ASSOCIATING PARTIAL ALBINISM AND IMMUNODEFICIENCY
SYNDROME ASSOCIATING PARTIAL ALBINISM AND IMMUNODEFICIENCY
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DOI：
10.1016/0002-9343(78)90858-6
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发表时间：
1978-01-01
影响因子：
5.9
通讯作者：
PRUNIERAS, M
中科院分区：
文献类型：
--
作者：
GRISCELLI, C;DURANDY, A;PRUNIERAS, M
两个不相关的患者部分白化病，频繁化脓性感染和急性发作的发热，中性粒细胞减少症和血小板减少症进行了描述。他们的色素稀释的特点是大团块的色素在毛干和黑素细胞中的黑素体的积累。黑素细胞有一些短的树突状扩张，角质形成细胞色素减退。电镜和ATP酶反应均未检测到或仅检测到少量郎格罕氏细胞。这种色素稀释，不同于所有其他人类白化病，类似于突变稀释（d-d）小鼠的独特缺陷。尽管存在足够数量的T [胸腺来源]和B [骨髓来源]淋巴细胞，但患者存在低丙种球蛋白血症，抗体产生不足，不能表现出迟发性皮肤过敏或排斥皮肤移植物。其白细胞在混合白细胞反应中不刺激正常淋巴细胞，也不产生细胞毒细胞。1例患者的T淋巴细胞在美洲商陆有丝分裂原体外刺激后不能对B淋巴细胞成熟为含免疫球蛋白的细胞发挥辅助作用。这表明体液缺乏可能继发于辅助性T淋巴细胞的缺陷。粒细胞未显示任何形态异常，其杀菌活性仅中度降低。在1例患者及其父母中发现伴刀豆球蛋白A（Con A）受体（加帽）极性分布的多形核白细胞数量增加。家族史提示该综合征为常染色体隐性遗传。
Two unrelated patients with partial albinism, frequent pyogenic infections and acute episodes of fever, neutropenia and thrombocytopenia were described. Their pigmentary dilution was characterized by large clumps of pigments in the hair shafts and an accumulation of melanosomes in melanocytes. Melanocytes had few short dendritic expansions, and keratinocytes were hypopigmented. No or few Langerhans'' cells were detected in skin by EM and ATPase reactions. This pigmentary dilution, different from all other human albinisms, resembles the unique defect of the mutant dilute (d-d) mouse. Despite the presence of an adequate number of T [thymus-derived] and B [bone marrow-derived] lymphocytes, the patients were hypogammaglobulinemic, deficient in antibody production and incapable of manifesting delayed skin hypersensitivity or of rejecting skin grafts. Their leukocytes did not stimulate normal lymphocytes and could not generate cytotoxic cells during mixed leukocyte reaction. T lymphocytes of 1 patient were unable to exert a helper effect on the maturation of B lymphocytes into immunoglobulin-containing cells following in vitro stimulation with pokeweed mitogen. This suggests that the humoral deficiency might be secondary to a defect of helper T lymphocytes. Granulocytes did not show any morphologic abnormality, and their bactericidal activity was only moderately reduced. An increased number of polymorphonuclear leukocytes with polar distribution of concanavalin A (Con A) receptors (capping) was found in 1 patient and the parents. The family histories suggested that this syndrome is transmitted as an autosomal recessive character.