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

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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Bibliographic Details
Main Authors: Christoph B. Geier, Kai M. T. Sauerwein, Alexander Leiss-Piller, Isabella Zmek, Michael B. Fischer, Martha M. Eibl, Hermann M. Wolf
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-12-01
Series:Frontiers in Immunology
Subjects:
primary immunodeficiency
B-cell defects
selective IgM deficiency
BTK
BLNK
marginal-zone B cells
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2018.02984/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2018.02984/full

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