X连锁低丙种球蛋白血症与孤立性生长激素缺乏症：最新进展
X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update.
作者信息
Stewart Donn M, Tian Lan, Notarangelo Luigi D, Nelson David L
机构信息
Immunophysiology Section, Metabolism Branch, NCI, NIH, National Institutes of Health, Bldg. 10, Rm. 4N115, MSC 1374, Bethesda, MD 20892, USA.
出版信息
Immunol Res. 2007;38(1-3):391-9. doi: 10.1007/s12026-007-0052-9.
X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLH-GHD, OMIM # 307200) is a primary immunodeficiency disorder characterized by pan-hypogammaglobulinemia and isolated growth hormone deficiency. The disease, which is only known to occur in a single family, shares many features with X-linked agammaglobulinemia (XLA, OMIM # 300300). The current review summarizes the clinical, laboratory and genetic features of the disease as they have unfolded over the past quarter century since its description.
X连锁低丙种球蛋白血症和孤立性生长激素缺乏症（XLH-GHD，OMIM # 307200）是一种原发性免疫缺陷病，其特征为全低丙种球蛋白血症和孤立性生长激素缺乏。该疾病仅在一个家族中出现，与X连锁无丙种球蛋白血症（XLA，OMIM # 300300）有许多共同特征。本综述总结了自该疾病被描述以来过去四分之一个世纪中所展现出的临床、实验室和遗传特征。
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