AUTHOR=Chinello Matteo , Mauro Margherita , Cantalupo Gaetano , Talenti Giacomo , Mariotto Sara , Balter Rita , De Bortoli Massimiliano , Vitale Virginia , Zaccaron Ada , Bonetti Elisa , Di Carlo Daniela , Barzaghi Federica , Cesaro Simone 

TITLE=Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease

JOURNAL=Frontiers in Pediatrics

VOLUME=8

YEAR=2020

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2020.580963

DOI=10.3389/fped.2020.580963

ISSN=2296-2360

ABSTRACT=<p>Lipopolysaccharide responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disorder (PID) that can cause a common variable immunodeficiency (CVID)-like disease. The typical features of the disease are autoimmunity, chronic diarrhea, and hypogammaglobulinemia. Neurological complications are also reported in patients affected by LRBA deficiency. We describe a 7-year old female with an acute cervical longitudinally extensive transverse myelitis (LETM) as a feature of LRBA deficiency. This is the first case of LETM associated with LRBA deficiency described in literature.</p>