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.
- acute cervical longitudinally extensive transverse myelitis
- common variable immune deficiency (CVID)
- lipopolysaccharide responsive beige-like anchor protein (LRBA)
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health