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Genetic Variation in Bruton Tyrosine Kinase

  • Chapter
Agammaglobulinemia

Part of the book series: Rare Diseases of the Immune System ((RDIS,volume 4))

Abstract

X-linked agammaglobulinemia (XLA) is a hereditary immunodeficiency caused by variations in the gene encoding for Bruton’s tyrosine kinase (BTK). Patients with XLA have decreased numbers of mature B cells, lack all immunoglobulin isotypes, and therefore have susceptibility to severe bacterial infections. XLA-causing variations are collected into BTKbase freely available at http://structure.bmc.lu.se/idbase/BTKbase/. Details of the variations are provided at DNA, RNA, and protein levels, using standardized systematic names and a plain English description. In addition, clinical details from the patients are provided when available. BTKbase contains variation entries for 1362 patients from 1198 unrelated families altogether for 742 unique molecular events. The localization of the variations on the gene and protein for BTK can be analyzed by clicking sequences on web pages. The distribution of the variations in the five structural domains is approximately according to the length of the domains, except for the TH and SH3 domains. The most frequently affected sites are CpG dinucleotides. The majority of the amino acid substitutions are structural affecting protein fold or stability. Detailed statistics is provided highlighting variation types, affected domains, exons and introns, as well as structural consequences.

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Acknowledgments

Financial support from Lund University, Medical Faculty, and Swedish Research Council VetenskapsrĂĄdet is gratefully acknowledged.

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Authors and Affiliations

  1. Department of Experimental Medical Science, Lund University, Lund, SE-22184, Sweden

    Gerard C. P. Schaafsma & Mauno Vihinen

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  1. Gerard C. P. Schaafsma
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  2. Mauno Vihinen
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Correspondence to Mauno Vihinen .

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Editors and Affiliations

  1. Pediatrics Clinic, Department of Clinical and Experimental Sciences, University of Brescia and Spedali Civili of Brescia, Brescia, Italy

    Alessandro Plebani

  2. Pediatrics Clinic, Department of Clinical and Experimental Sciences, University of Brescia and Spedali Civili of Brescia, Brescia, Italy

    Vassilios Lougaris

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Schaafsma, G.C.P., Vihinen, M. (2015). Genetic Variation in Bruton Tyrosine Kinase. In: Plebani, A., Lougaris, V. (eds) Agammaglobulinemia. Rare Diseases of the Immune System, vol 4. Springer, Cham. https://doi.org/10.1007/978-3-319-22714-6_5

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  • DOI: https://doi.org/10.1007/978-3-319-22714-6_5

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-22713-9

  • Online ISBN: 978-3-319-22714-6

  • eBook Packages: MedicineMedicine (R0)

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