TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell …
N Romberg, M Virdee, N Chamberlain, T Oe… - Journal of Allergy and …, 2015 - Elsevier
Background Heterozygous C104R or A181E TNF receptor superfamily member 13b
(TNFRSF13B) mutations impair removal of autoreactive B cells, weaken B-cell activation,
and convey to patients with common variable immune deficiency (CVID) an increased risk
for autoimmunity. How mutant transmembrane activator and CAML interactor (TACI)
influences wild-type TACI function is unclear; different models suggest either a dominant
negative effect or haploinsufficiency. Objective We investigated potential TACI …
(TNFRSF13B) mutations impair removal of autoreactive B cells, weaken B-cell activation,
and convey to patients with common variable immune deficiency (CVID) an increased risk
for autoimmunity. How mutant transmembrane activator and CAML interactor (TACI)
influences wild-type TACI function is unclear; different models suggest either a dominant
negative effect or haploinsufficiency. Objective We investigated potential TACI …
