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Biology and novel treatment options for XLA, the most common monogenetic immunodeficiency in man

2 Jun 2011

Abstract excerpt

INTRODUCTION: X-linked agammaglobulinemia (XLA) is the most common primary immunodeficiency in man, and is caused by a single genetic defect. Inactivating mutations in the Bruton's tyrosine kinase (BTK) gene are invariably the cause of XLA,. XLA is characterized by a differentiation arrest at the pre-B cell stage, the absence of immunoglobulins and recurrent bacterial infections, making it an insidious disease...

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PMID: 21635151
DOI: 10.1517/14728222.2011.585971

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