Article
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.
Clinical immunology (Orlando, Fla.) - 1 Jul 2015
Revel-Vilk Shoshana, Fischer Ute, Keller Bärbel, Nabhani Schafiq, Gámez-Díaz Laura, Rensing-Ehl Anne, Gombert Michael, Hönscheid Andrea, Saleh Hani, Shaag Avraham, Borkhardt Arndt, Grimbacher Bodo, Warnatz Klaus, Elpeleg Orly, Stepensky Polina
Abstract excerpt
Mutations in LPS-responsive and beige-like anchor (LRBA) gene were recently described in patients with combined immunodeficiency, enteropathy and autoimmune cytopenia. Here, we extend the clinical and immunological phenotypic spectrum of LRBA associated disorders by reporting on three patients from two unrelated families who presented with splenomegaly and lymphadenopathy, cytopenia, elevated double negative T...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.