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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Pubblicato in:Front Immunol
Autori principali: Geier, Christoph B., Sauerwein, Kai M. T., Leiss-Piller, Alexander, Zmek, Isabella, Fischer, Michael B., Eibl, Martha M., Wolf, Hermann M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2018
Soggetti:
Immunology
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305442/
https://ncbi.nlm.nih.gov/pubmed/30619340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2018.02984
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