Sanfilippo syndrome type D.
Sanfilippo syndrome type D.
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D型桑菲利波综合征
DOI：
10.1016/s0022-3476(87)80171-3
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
L. Wolfe
中科院分区：
文献类型：
--
作者：
P. Kaplan;L. Wolfe
第110卷临床和实验室观察2 6 7 2号抗体良好，5但我们的病人没有这种先天性或出生后感染的证据。虽然艾滋病患者的B细胞功能受损，但他们的免疫球蛋白水平通常正常或升高。免疫球蛋白水平可能会降低，但这通常是在疾病的后期。我们发现只有两个报告有关泛低丙种球蛋白血症的艾滋病患者。其中一个描述了一名男子与常见的可变低丙种球蛋白血症和血友病，艾滋病后来发展，可能是通过血液制品。[6]另一份报告评估了患有猿类艾滋病的猴子，所有猴子都患有泛低丙种球蛋白血症。7我们不能证明我们的病人在就诊时的严重的全低丙种球蛋白血症是艾滋病病毒感染的结果。在大多数AIDS患者中，HIV感染导致至少一种免疫球蛋白类的多克隆活化。虽然艾滋病患者有高丙种球蛋白血症，但通常缺乏对新遇到的抗原产生特异性抗体的能力。[8]这些发现可以用辅助性T细胞数量的减少以及伴随的”帮助”B细胞合成免疫球蛋白能力的丧失来解释。这对于经常发生细菌感染的儿童艾滋病来说尤其重要，我们也没有证据证明这个孩子没有机会同时患有艾滋病和一种无关的免疫缺陷疾病，因为没有进行尸检，但她的免疫学特征不符合除艾滋病以外的任何已知免疫缺陷。目前尚不清楚为什么该患者的免疫球蛋白水平持续非常低，而其他经胎盘获得性儿科艾滋病患者通常在非常早期就有高丙种球蛋白血症。9我们建议，
Volume 110 Clinical and laboratory observations 2 6 7 Number 2 antibody well, 5 but our patient had no evidence of such congenital or postnatal infection. Although patients with AIDS have impaired B cell function, their levels of immunoglobulins are usually normal or elevated. Immunoglobulin levels may be depressed, but this is usually late in the course of the disease. We found only two reports concerning panhypogammaglobulinemia in patients with AIDS. One described a man with common variable hypogammaglobulinemia and hemophilia in whom AIDS later developed, presumably through blood products. 6 Another report evaluated monkeys with simian AIDS; all of the monkeys had panhypogammaglobulinemia. 7 We cannot prove that our patient's profound panhypogammaglobulinemia at presentation was a consequence of infection with the AIDS virus. Infection with HIV in most patients with AIDS results in polyclonal activation of at least one of the immunoglobulin classes. Though patients with AIDS have hypergammaglobulinemia, there usually is a deficiency in the ability to mount specific antibody to newly encountered antigens. 8 These findings could be explained by a decrease in the number of helper T cells with concomitant loss of the ability to" help" in immunoglobulin synthesis by B cells. This has been particularly important in pediatric AIDS in which there are frequent bacterial infections.We also have no proof that this child did not have a chance occurrence of both AIDS and a nonrelated immunodeficiency disorder, because no autopsy was performed, but her immunologic profile fits none of the known immunodeficiencies other than AIDS. It is not clear why this patient continued to have very low immunoglobulin levels, in contrast to other patients with transplacentally acquired pediatric AIDS who have hypergammaglobulinemia, often at very early stages. 9 We suggest that