Fiorini Maurilia, Franceschini Roberta, Soresina Annarosa, Schumacher Richard-Fabian, Ugazio Alberto G, Rossi Paolo, Plebani Alessandro, Notarangelo Luigi D
Angelo Nocivelli Institute of Molecular Medicine, Spedali Civili University of Brescia, Italy.
Hum Mutat. 2004 Mar;23(3):286. doi: 10.1002/humu.9219.
X linked agammaglobulinemia (XLA) is an immunodeficiency disease caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK), that is involved in signal transduction pathways regulating survival, activation, proliferation, and differentiation of B lineage lymphoid cells. XLA is a primary immunodeficiency disorder characterized by lack of mature, circulating B lymphocytes, and recurrent infections. Using Single Strand Conformation Polymorphism (SSCP) followed by direct sequencing we investigated 57 patients with XLA phenotype, with or without a positive family history, from 52 unrelated families enrolled in the Italian XLA Multicenter Clinical Study. We have identified 25 recurrent mutations, 22 novel mutations including one large deletion comprising the coding sequence from exon 11 to 18. Among the mutations identified, three were detected in different unrelated families, whereas all the others were private mutations.
X连锁无丙种球蛋白血症（XLA）是一种免疫缺陷疾病，由编码布鲁顿无丙种球蛋白血症酪氨酸激酶（BTK）的基因突变引起，BTK参与调节B淋巴细胞系存活、激活、增殖和分化的信号转导途径。XLA是一种原发性免疫缺陷疾病，其特征为缺乏成熟的循环B淋巴细胞以及反复感染。我们采用单链构象多态性（SSCP）并结合直接测序技术，对参加意大利XLA多中心临床研究的52个无亲缘关系家庭中的57例有或无阳性家族史的XLA表型患者进行了研究。我们鉴定出25个复发性突变、22个新突变，其中包括一个包含外显子11至18编码序列的大片段缺失。在鉴定出的突变中，有3个在不同的无亲缘关系家庭中被检测到，而其他所有突变均为私人突变。
