Ontology highlight
ABSTRACT:
SUBMITTER: Martinez Jaramillo C
PROVIDER: S-EPMC6220489 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Martínez Jaramillo Catalina C Trujillo-Vargas Claudia M CM
Colombia medica (Cali, Colombia) 20180930 3
Bi-allelic mutations in <i>LRBA</i> (from <i>Lipopolysaccharide-responsive and beige-like anchor protein</i>) result in a primary immunodeficiency with clinical features ranging from hypogammaglobulinemia and lymphoproliferative syndrome to inflammatory bowel disease and heterogeneous autoimmune manifestations. LRBA deficiency has been shown to affect vesicular trafficking, autophagy and apoptosis, which may lead to alterations of several molecules and processes that play key roles for immunity. ...[more]