Publications

Authors:

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

Year:

2020

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

Elettronico

Referee:

Sì

Name of journal:

FRONTIERS IN PEDIATRICS

ISSN of journal:

2296-2360

N° Volume:

8

Number or Folder:

580963

Page numbers:

1-5

Keyword:

acute cervical longitudinally extensive transverse myelitis; autommunity; common variable immune deficiency (CVID); lipopolysaccharide responsive beige-like anchor protein (LRBA); myelitis

Short description of contents:

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.

Web page:

https://doi.org/10.3389/fped.2020.580963

Product ID:

117485

Handle IRIS:

11562/1029658

Last Modified:

November 28, 2022

Bibliographic citation:

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, 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 «FRONTIERS IN PEDIATRICS» , vol. 8 , n. 580963 , 2020 , pp. 1-5

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo