TY - JOUR
T1 - Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency
T2 - A New Complication of a Rare Disease
AU - Chinello, Matteo
AU - Mauro, Margherita
AU - Cantalupo, Gaetano
AU - Talenti, Giacomo
AU - Mariotto, Sara
AU - Balter, Rita
AU - De Bortoli, Massimiliano
AU - Vitale, Virginia
AU - Zaccaron, Ada
AU - Bonetti, Elisa
AU - Di Carlo, Daniela
AU - Barzaghi, Federica
AU - Cesaro, Simone
N1 - Publisher Copyright:
© Copyright © 2020 Chinello, Mauro, Cantalupo, Talenti, Mariotto, Balter, De Bortoli, Vitale, Zaccaron, Bonetti, Di Carlo, Barzaghi and Cesaro.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/10/16
Y1 - 2020/10/16
N2 - 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.
AB - 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.
KW - acute cervical longitudinally extensive transverse myelitis
KW - autommunity
KW - common variable immune deficiency (CVID)
KW - lipopolysaccharide responsive beige-like anchor protein (LRBA)
KW - myelitis
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U2 - 10.3389/fped.2020.580963
DO - 10.3389/fped.2020.580963
M3 - Article
AN - SCOPUS:85094674587
VL - 8
JO - Frontiers in Pediatrics
JF - Frontiers in Pediatrics
SN - 2296-2360
M1 - 580963
ER -