Zaidi Samreen Kulsom, Qureshi Sonia, Qamar Farah Naz
Department of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi, Pakistan.
J Pak Med Assoc. 2017 Mar;67(3):471-473.
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan.
X连锁无丙种球蛋白血症（XLA）是一种原发性免疫缺陷病，布鲁顿酪氨酸激酶（Bkt）基因存在600多种突变，这些突变导致早发性无丙种球蛋白血症和反复感染。在此，我们报告一例3岁男孩，有反复腹泻病史，并曾发生一次伴有偏瘫的脑膜脑炎。检查显示免疫球蛋白水平极低，CD +19细胞数量减少。基因分析显示Btk突变18 c.1883delC p.T628fs。据我们所知，这是巴基斯坦首例经分子技术确诊的XLA病例报告。
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