Shaka Zoha, Mojtabavi Helia, Rayzan Elham, Zoghi Samaneh, Shahkarami Sepideh, Raul Jimenez Heredia, Sedighi Iraj, Boztug Kaan, Rezaei Nima
School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Allergol Immunopathol (Madr). 2021 Mar 1;49(2):80-83. doi: 10.15586/aei.v49i2.62. eCollection 2021.
X-linked agammaglobulinemia (XLA), the first known primary immunodeficiency, is caused by rare mutations in Bruton's tyrosine kinase (BTK) gene. Mutations in the BTK gene lead to a failure in the development and maturation of B-cell linage. A decreased number of B-cells results in agammaglobulinemia and increased susceptibility to a variety of infections. Therefore, patients with XLA usually manifest with repetitive bacterial infections, such as upper respiratory tract infections, septic arthritis, osteomyelitis, and urinary tract infections, since their infancy.
We report a 17-year-old Iranian boy with XLA, referred to us with a history of severe and recurrent episodes of bacterial infections for a period of six years.
Genetic analysis using the whole Exome sequencing revealed a hemizygous missense mutation in the BTK gene (c.428 A > T, p.His143Leu).
To our knowledge, c.428 A > T has not been reported in the BTK gene.
X连锁无丙种球蛋白血症（XLA）是首个被发现的原发性免疫缺陷病，由布鲁顿酪氨酸激酶（BTK）基因的罕见突变引起。BTK基因突变导致B细胞系发育和成熟失败。B细胞数量减少导致无丙种球蛋白血症，并增加对多种感染的易感性。因此，XLA患者自婴儿期起通常表现为反复细菌感染，如 上呼吸道感染、化脓性关节炎、骨髓炎和尿路感染。
我们报告一名17岁的伊朗男孩，患有XLA，因六年内严重且反复的细菌感染病史前来就诊。
使用全外显子组测序进行的基因分析显示，BTK基因存在半合子错义突变（c.428 A>T，p.His143Leu）。
据我们所知，BTK基因中尚未报道过c.428 A>T突变。
