CVID-Associated B Cell Activating Factor Receptor Variants Change Receptor Oligomerization, Ligand Binding, and Signaling Responses.

Violeta BlockEirini SevdaliMike RecherHassan AbolhassaniLennart HammarstromCristian R SmulskiManuela BaronioAlessandro PlebaniMichele ProiettiMatthaios SpeletasKlaus WarnatzReinhard E VollVassilios LougarisPascal SchneiderHermann Eibel

Published in: Journal of clinical immunology (2022)

Although all variants change BAFFR function and have the potential to contribute as modifiers to the development of primary antibody deficiencies, autoimmunity, and lymphoma, P21R is the only variant that was found to correlate positively with CVID.

Keyphrases

copy number
signaling pathway
diffuse large b cell lymphoma
binding protein
gene expression
risk assessment