✦ LIBER ✦

Newly diagnosed X-linked agammaglobulinemia (XLA), bruton's tyrosine kinase (Btk) mutation, in a 39 year-old male

✍ Scribed by Bulley, Sean R; Zhang, J; Kwong, S; Roifman, Chaim

Book ID: 119490556
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 131 KB
Volume: 109
Category: Article
ISSN: 1097-6825
DOI: 10.1016/s0091-6749(02)81694-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of the bruton tyrosine ki

Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA)

✍ Marija Velickovic; Madhuri L. Prasad; Susan A. Weston; Elizabeth M. Benson 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. Twenty Australian patients with an XLA phenotype, from 15 unrelated families, were found to have 14 mutations. Five of the mutations were previously described c.83G>A (p.R28H), c.86

Identification of mutations of Bruton's

Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia

✍ Sergio Massayuki Tani; Yue Wang; Hirokazu Kanegane; Takeshi Futatani; Jorge Pint 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB

Mutations in the Bruton tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in the peripheral blood. We evaluated 17 male Brazilian patients

Identification of mutations in the Bruto

Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients

✍ Eun-Kyeong Jo; Yue Wang; Hirokazu Kanegane; Takeshi Futatani; Chang-Hwa Song; Je 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 223 KB

Mutation analysis of the gene encoding B

Mutation analysis of the gene encoding Bruton's tyrosine kinase in a family with a sporadic case of X-linked agammaglobulinemia reveals three female carriers

✍ Hagemann, Tracy L. ;Assa'ad, Amal H. ;Kwan, Sau-Ping 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 586 KB

Detection of a novel mutation in the SRC

Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia

✍ Schuster, Volker; Seidenspinner, Silvia; Kreth, Hans Wolfgang 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease with a block in differentiation from pre-B to B cells resulting in a selective defect in the humoral immune response. Affected males have very low concentrations of serum immunoglobulins leading predominantly to recurrent bac