Wiersbitzky S, Schroeter C
Allerg Immunol (Leipz). 1976;22(2):167-70.
Chromosome analyses were made on culture lymphozytes from peripheral blood in 37 patients with humoral and local antibody deficiency syndrome. In one child with humoral IgA-deficiency a ploidymutation of sex chromosomes - a Klinefelter-Syndrome - and a structural variante of chromosome 16 were detected - karyotype 47, XXY, 16q+. No aberrations of chromosomes 18 and 21 were found out in these phenotypic completely normal children. Patients with secret-IgA-deficiency in mucosae had normal karyotypes. Theoretical aspects of possible connection of antibody deficiency syndrome and chromosomal anomalies are discussed.
对37例体液和局部抗体缺乏综合征患者的外周血培养淋巴细胞进行了染色体分析。在1例体液IgA缺乏的儿童中,检测到性染色体的多倍体突变——克兰费尔特综合征,以及16号染色体的结构变异——核型47,XXY,16q+。在这些表型完全正常的儿童中未发现18号和21号染色体的畸变。黏膜分泌型IgA缺乏的患者核型正常。讨论了抗体缺乏综合征与染色体异常可能联系的理论方面。