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Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis

B cell activation via the B cell receptor (BCR) signalosome involves participation of signaling molecules such as BTK and BLNK. Genetic defects in these molecules are known to impair B cell differentiation and subsequently lead to agammaglobulinemia. Here we identified novel mutations in BTK and BLN...

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Detalles Bibliográficos
Autores principales: Geier, Christoph B., Sauerwein, Kai M. T., Leiss-Piller, Alexander, Zmek, Isabella, Fischer, Michael B., Eibl, Martha M., Wolf, Hermann M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305442/
https://www.ncbi.nlm.nih.gov/pubmed/30619340
http://dx.doi.org/10.3389/fimmu.2018.02984