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. 2021 Jun 10;12:689472. doi: 10.3389/fimmu.2021.689472

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Copyright © 2021 Smith and Burger

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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The B cell receptor (BCR) signaling pathway and the corresponding germline mutations found in man, or only generated in mice (molecules marked with ). Proteins marked as represent Loss-of-Function (LoF) mutations with defects limited to B cells, whereas the LoF mutations marked as cause defects not limited to B cells. The corresponding filled symbols mark Gain-of-Function (GoF). CARD11 and SYK, which are the only proteins affected by either GoF or LoF, appear as two molecules. LoF mutations in the NF-κB pathway cause B cell defects, whereas those affecting AP-1 signaling result in GoF RASopathies marked as . The single LoF mutation in the NFAT pathway affects the ITPKB gene causing severe combined immunodeficiency (SCID), primarily influencing development of the T cell lineage.

Inline graphic — The B cell receptor (BCR) signaling pathway and the corresponding germline mutations found in man, or only generated in mice (molecules marked with ). Proteins marked as represent Loss-of-Function (LoF) mutations with defects limited to B cells, whereas the LoF mutations marked as cause defects not limited to B cells. The corresponding filled symbols mark Gain-of-Function (GoF). CARD11 and SYK, which are the only proteins affected by either GoF or LoF, appear as two molecules. LoF mutations in the NF-κB pathway cause B cell defects, whereas those affecting AP-1 signaling result in GoF RASopathies marked as . The single LoF mutation in the NFAT pathway affects the ITPKB gene causing severe combined immunodeficiency (SCID), primarily influencing development of the T cell lineage.