Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome
J Chinen, M Martinez-Gallo, W Gu, M Cols… - Journal of allergy and …, 2011 - Elsevier
Background Heterozygous deleterious mutations in the gene encoding the tumor necrosis
factor receptor superfamily member 13b (TNFRSF13B), or transmembrane activator and
CAML interactor (TACI), have been associated with the development of common variable
immunodeficiency. Smith-Magenis syndrome (SMS) is a genetic disorder characterized by
developmental delay, behavioral disturbances, craniofacial anomalies, and recurrent
respiratory tract infections. Eighty percent of subjects have a chromosome 17p11. 2 …
factor receptor superfamily member 13b (TNFRSF13B), or transmembrane activator and
CAML interactor (TACI), have been associated with the development of common variable
immunodeficiency. Smith-Magenis syndrome (SMS) is a genetic disorder characterized by
developmental delay, behavioral disturbances, craniofacial anomalies, and recurrent
respiratory tract infections. Eighty percent of subjects have a chromosome 17p11. 2 …