Immunodeficiency associated with a deletion in the short arm of the X-chromosome.
Immunodeficiency associated with a deletion in the short arm of the X-chromosome.
复制标题
与 X 染色体短臂缺失相关的免疫缺陷。
DOI：
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发表时间：
1981
影响因子：
4.6
通讯作者：
K. Kouvalainen
中科院分区：
文献类型：
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作者：
T. Nurmi;M. Uhari;S. Linna;R. Herva;A. Tiilikainen;K. Kouvalainen
对一名 28 岁智力迟钝先证者及其临床正常的母亲和姐妹的免疫能力进行了评估，她们都具有 X 染色体之一的短臂缺失 [46，X，del (X)（pter 至 22：：p11 至 qter）]。先证者的免疫球蛋白 IgA (0 . 4 g/l)、IgG (4 . 4 g/l) 和 IgM (0 . 2 g/l) 浓度较低。她母亲的血清 IgA (0 . 9 g/l) 浓度也处于正常下限。先证者 (0. 17g/l) 和她母亲 (0. 18 g/l) 的补体成分 C4 血清浓度都很低。粒细胞对细菌的吞噬和杀灭作用均正常。然而，患者粒细胞的趋化反应处于较低的正常水平。患者外周血淋巴细胞对多克隆 T 克隆有丝分裂原、PHA 和 Con A 的体外反应大约是正常的一半，而她母亲的反应也有所下降。对 PWM 的反应也有所下降，患者的反应约为正常值的六分之一，而她母亲的反应则为正常值的二分之一。妹妹的 Con A 反应降低，而 PHA 和 PWM 反应正常。与这些发现相反，所有受试者对抗原特异性刺激剂 PPD 和阿霉素的反应均正常。患者体内针对 K-562 细胞系的自然杀伤细胞活性降低，但其母亲和姐姐的活性正常。所有受试者的 B 细胞数量均处于正常限度。 E玫瑰花结形成T淋巴细胞的数量正常，但ANAE阳性细胞的数量减少，特别是在先证者中（31%）。我们的结果描述了一种新的人类免疫缺陷状态，可能与 X 染色体缺失有关。我们认为 X 染色体的短臂对调节性 T 细胞发挥作用。体液缺陷是否与抑制性 T 细胞有关仍有待确定。
The immunocapacity of a 28-year-old mentally retarded proband and her clinically normal mother and sister, all having a deletion of the short arm of one of the X-chromosomes [46, X, del (X) (pter to 22: :p11 to qter)], was evaluated. The concentrations of immunoglobulin IgA (0 . 4 g/l), IgG (4 . 4 g/l) and IgM (0 . 2 g/l) were low in the proband. The serum IgA (0 . 9 g/l) concentration of her mother was also at the lower normal limit. The serum concentration of complement component C4 was low both in the proband (0 . 17g/l) and in her mother (0 . 18 g/l). Phagocytosis and killing of bacteria by granulocytes were normal in all of them. However, the chemotactic response of granulocytes was at the lower normal level in the patient. The in vitro responses of peripheral blood lymphocytes to the polyclonal T-clonal mitogens, PHA and Con A, were about half normal in the patient and were also decreased in her mother. The response was also decreased against PWM, to about one-sixth of the normal value in the patient and to one-half in her mother. The Con A response was decreased in the sister, while her PHA and PWM responses were normal. In contrast to these findings, the responses against the antigen-specific stimulators, PPD and oidiomycin, were normal in all subjects. Natural killer cell activity against the K-562 cell line was decreased in the patient but normal in her mother and sister. The number of B cells was at the normal limit in all subjects. The amount of E rosette-forming T lymphocytes was normal but the amount of ANAE-positive cells was decreased, especially in the proband (31%). Our results describe a new human immunodeficiency state, probably associated with X-chromosome deletion. We suggest that the short arm of the X-chromosome exerts its effect on regulatory T cells. Whether the humoral defect is connected with suppressor T cells remains to be established.