Variants of Nijmegen breakage syndrome and ataxia telangiectasia.

Immunodeficiency Pub Date : 1993-01-01
C M Weemaes, D F Smeets, M Horstink, A Haraldsson, J A Bakkeren
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Abstract

Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by telangiectasia, progressive ataxia, sinopulmonary infections and a combined immunodeficiency (usually consisting of IgA deficiency, IgE deficiency, IgG2 and IgG4 deficiency and a disturbed T cell immunity). The alpha-fetoprotein level is elevated. Cytogenetic studies reveal a very specific chromosome instability with multiple chromosome 7 and/or 14 rearrangements (preferential breakpoints 14q32, 14q12, 7q35 and 7p12). X-ray hypersensitivity is one of the hallmarks of the disease. Nijmegen Breakage Syndrome (NBS), an autosomal recessive disorder with some features of AT, was first reported in 1981. At this moment at least 19 patients have been recognized. Clinical symptoms are microcephaly from birth, a peculiar face, growth retardation, repeated respiratory tract infections and renal abnormalities. Immunological, cytogenetic and cell-biological findings in NBS are identical to AT. However, alpha-fetoprotein levels are not increased. A tendency toward malignancy has been demonstrated in both syndromes. Recently, we encountered three patients with variants of these syndromes.

奈梅亨断裂综合征与共济失调毛细血管扩张的变异。
共济失调毛细血管扩张症(AT)是一种常染色体隐性遗传病,其特征为毛细血管扩张、进行性共济失调、肺感染和联合免疫缺陷(通常包括IgA缺乏、IgE缺乏、IgG2和IgG4缺乏以及T细胞免疫紊乱)。甲胎蛋白水平升高。细胞遗传学研究揭示了一种非常特殊的染色体不稳定性,包括7号染色体和/或14号染色体的多重重排(优先断点14q32、14q12、7q35和7p12)。x射线过敏是这种疾病的特征之一。奈亨断裂综合征(NBS)是一种常染色体隐性遗传病,具有某些AT的特征,于1981年首次报道。目前已经确认了至少19名患者。临床症状为出生时小头畸形、面容奇特、生长迟缓、反复呼吸道感染和肾脏异常。NBS的免疫学、细胞遗传学和细胞生物学结果与AT相同。然而,甲胎蛋白水平并没有增加。两种综合征均有恶性肿瘤的倾向。最近,我们遇到了三名患有这些综合征变体的患者。
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