Nurmi T, Uhari M, Linna S L, Herva R, Tiilikainen A, Kouvalainen K
Clin Exp Immunol. 1981 Jul;45(1):107-12.
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.
对一名28岁的智障先证者及其临床正常的母亲和姐姐的免疫能力进行了评估，她们均有一条X染色体短臂缺失[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。其母亲的血清IgA（0.9 g/l）浓度也处于正常下限。补体成分C4的血清浓度在先证者（0.17g/l）及其母亲（0.18 g/l）中均较低。她们所有人的粒细胞对细菌的吞噬和杀伤功能均正常。然而，患者粒细胞的趋化反应处于正常下限水平。患者外周血淋巴细胞对多克隆T细胞有丝分裂原PHA和Con A的体外反应约为正常水平的一半，其母亲的反应也降低。患者对PWM的反应也降低，降至正常水平的约六分之一，其母亲则降至二分之一。姐姐的Con A反应降低，而她的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物PPD和曲古霉素的反应均正常。患者针对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范围。E玫瑰花结形成T淋巴细胞数量正常，但ANAE阳性细胞数量减少，尤其是在先证者中（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。
