Stewart Donn M, Tian Lan, Notarangelo Luigi D, Nelson David L
Immunophysiology Section, Metabolism Branch, CCR, NCI, National Institute of Health, Bldg. 10, Bethesda, MD 20892, USA.
Immunol Res. 2008;40(3):262-70. doi: 10.1007/s12026-007-0028-9.
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合并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被发现，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的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。
