Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency

Background: Polyautoimmunity is defined as the presence of more than one autoimmune disorder in a single patient. Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) deficiency is one of the monogenic causes of polyautoimmunity. The aim of this study was to report the characteristics of polyautoimmunity in patients with LRBA deficiency. Methods: A total of 14 LRBA deficiency patients with confirmed autoimmunity were enrolled in this study. For those patients with polyautoimmunity, demographic information, clinical records, laboratory, and molecular data were collected. We also compared our results with the currently reported patients with LRBA deficiency associated with polyautoimmunity. Results: In 64.2% (9 out of 14) of patients, autoimmunity presented as polyautoimmunity. In these patients, autoimmune cytopenias were the most frequent complication, observed in seven patients. Three patients presented with four different types of autoimmune conditions. The review of the literature showed that 41 of 72 reported LRBA deficient patients (74.5%) had also polyautoimmunity, with a wide spectrum of autoimmune diseases described. Hematopoietic stem cell transplantation is increasingly used as the treatment for patients with severe polyautoimmunity associated to LRBA deficiency. Conclusions: Mutation in LRBA gene is one of the causes of monogenic polyautoimmunity. Awareness of this association is important in order to make an early diagnosis and prompt treatment. © 2018, © 2018 Taylor and Francis.

• Fecha de publicación: 2018
• Institución: Universidad del Rosario
• Repositorio: Repositorio EdocUR - U. Rosario
• Idioma: eng
• OAI Identifier: oai:repository.urosario.edu.co:10336/24283
• Acceso en línea: https://doi.org/10.1080/08820139.2018.1446978; https://repository.urosario.edu.co/handle/10336/24283
• Palabra clave: Cyclosporine; Hydroxychloroquine; Immunoglobulin; Infliximab; Prednisolone; Rapamycin; Rituximab; Salazosulfapyridine; Lipopolysaccharide; Signal transducing adaptor protein; Adolescent; Adult; Article; Autoimmune disease; Autoimmune hemolytic anemia; Autoimmunity; Clinical article; Controlled study; Cytopenia; Drug megadose; Female; Gastritis; Gene; Hematopoietic stem cell transplantation; Human; Idiopathic thrombocytopenic purpura; Inflammatory bowel disease; Juvenile rheumatoid arthritis; Lipopolysaccharide responsive beige like anchor deficiency; Lipopolysaccharide responsive beige like anchor gene; Low drug dose; Male; Polyautoimmunity; Priority journal; Vitiligo; Young adult; Autoimmune disease; Biology; Child; Deficiency; Genetics; Immunology; Multimodality cancer therapy; Mutation; Procedures; Register; Symptom assessment; Adolescent; Adult; Autoimmune diseases; Autoimmunity; Child; Combined modality therapy; Computational biology; Female; Humans; Lipopolysaccharides; Male; Mutation; Registries; Symptom assessment; Young adult; Autoimmune cytopenia; Lps-responsive beige-like anchor; Multiple autoimmune syndrome; Polyautoimmunity; signal transducing; human; Lrba protein; Adaptor proteins
• License: Abierto (Texto Completo)