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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

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. Neurologica...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7596261/
https://www.ncbi.nlm.nih.gov/pubmed/33178652
http://dx.doi.org/10.3389/fped.2020.580963
Descripción
Sumario: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.