New findings from Fudan University describe advances in agammaglobulinemia
2009 JUL 20 - (NewsRx.com) -- According to recent research from Shanghai, People's Republic of China, "X-Linked agammaglobulinemia is a prototypical humoral immunodeficiency with the mutation of the Bruton's tyrosine kinase gene. We investigated the gene mutation and clinical features of 30 Chinese X-linked agammaglobulinemia (XLA) patients from 27 families." "There were 26 mutations, including 11 novel and 15 recurrent mutations, distributing over the entire gene. The nucleotide and amino acid aberration, 1129C > T(H333Y) and 1196T > A(I355N), in SH2 have not been reported before. Five (I355N, W124R, R520X, I590F, G594E) of the 24 mutations not detected in the mothers receiving gene analysis were determined to be de novo. Two mutations occurred within intronic splice-site sequences (intron5(-2)A > G, intron17(-2)A > T). There are eight mutations in the PH domain, two mutations in the SH3 domain, three mutations in the SH2 domain, one mutation in the TH domain, and other 16 mutations in the TK domain. The mutations of protein domain is most common in TK (53%) domain and then in PH(8%) domain. Missense and nonsense mutations were found equal in 46% of the detected mutations. All of the patients are alive, but one died of liver cancer. Clinical features and serum Igs levels range variedly and were not correlated with genotypes," wrote Y. Wang and colleagues, Fudan University. The researchers concluded: "Our results demonstrated molecular genetic characteristics of XLA in mainland China." Wang and colleagues published their study in the Journal of Clinical Immunology (Mutation of the BTK Gene and Clinical Feature of X-Linked Agammaglobulinemia in Mainland China. Journal of Clinical Immunology, 2009;29(3 Sp. Iss.):352-356). For additional information, contact X.C. Wang, Fudan University, Columbus Children's Hospital, Jeffrey Modell Diagnostic & Research Center, Dept. of Clinic Immunology, 399 Wanyuan Rd., Shanghai 201102, People's Republic of China. Publisher contact information for the Journal of Clinical Immunology is: Springer, Plenum Publishers, 233 Spring St., New York, NY 10013, USA. Keywords: People's Republic of China, Shanghai, Agammaglobulinemia, Clinical Immunology, Enzyme Research, Immunodeficiency, Immunology, Kinase, Proteins, Proteomics, Tyrosine Kinase, Fudan University. This article was prepared by Proteomics Weekly editors from staff and other reports. Copyright 2009, Proteomics Weekly via NewsRx.com.
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