Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.

doi:10.1016/j.molimm.2009.03.012

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Article

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.

Molecular immunology - 1 Jun 2009

Tóth Beáta, Volokha Alla, Mihas Alexander, Pac Malgorzata, Bernatowska Ewa, Kondratenko Irina, Polyakov Alexander, Erdos Melinda, Pasic Srdjan, Bataneant Michaela, Szaflarska Anna, Mironska Kristina, Richter Darko, Stavrik Katarina, Avcin Tadej, Márton Gabriella, Nagy Kálmán, Dérfalvi Beáta, Szolnoky Miklós, Kalmár Agnes, Belevtsev Michael, Guseva Marina, Rugina Aurica, Kriván Gergely, Timár László, Nyul Zoltán, Mosdósi Bernadett, Kareva Lidija, Peova Sonja, Chernyshova Liudmyla, Gherghina Ioan, Serban Margit, Conley Mary Ellen, Notarangelo Luigi D, Smith C I Edvard, van Dongen Jacques, van der Burg Mirjam, Maródi László

Abstract excerpt

Primary immunodeficiency disorders are a recognized public health problem worldwide. The prototype of these conditions is X-linked agammaglobulinemia (XLA) or Bruton's disease. XLA is caused by mutations in Bruton's tyrosine kinase gene (BTK), preventing B cell development and resulting in the almost total absence of serum immunoglobulins. The genetic profile and prevalence of XLA have not previously been studied...

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PMID: 19419768
DOI: 10.1016/j.molimm.2009.03.012

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