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Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient

BACKGROUND: X-linked agammaglobulinaemia (XLA) is the most common inherited humoural immunodeficiency disorder. Mutations in the gene coding for Bruton’s tyrosine kinase (BTK) have been identified as the cause of XLA. Most affected patients exhibit a marked reduction of serum immunoglobulins, mature...

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Detalles Bibliográficos
Autores principales: Lim, Lee-Moay, Chang, Jer-Ming, Wang, I-Fang, Chang, Wei-Chiao, Hwang, Daw-Yang, Chen, Hung-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849551/
https://www.ncbi.nlm.nih.gov/pubmed/24074005
http://dx.doi.org/10.1186/1471-2431-13-150