Mesci Lütfiye, Ozdag Hilal, Turul Tuba, Ersoy Fügen, Tezcan Ilhan, Sanal Ozden
Immunology Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2006 Oct-Dec;48(4):362-4.
X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the skipping of exon 9 in a 2.5-year-old boy with this disorder.
X连锁无丙种球蛋白血症（XLA）是一种原发性B细胞免疫缺陷疾病，由布鲁顿酪氨酸激酶（BTK）基因缺陷引起。在此，我们描述了一名患有该疾病的2.5岁男孩，其BTK基因第9内含子存在一种新的4个碱基对的突变（838delGAGT），导致外显子9跳跃缺失。
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