Pubblicazioni

Autori:

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

Titolo:

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

Anno:

2020

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

Elettronico

Referee:

Sì

Nome rivista:

FRONTIERS IN PEDIATRICS

ISSN Rivista:

2296-2360

N° Volume:

8

Numero o Fascicolo:

580963

Intervallo pagine:

1-5

Parole chiave:

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

Breve descrizione dei contenuti:

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.

Pagina Web:

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

Id prodotto:

117485

Handle IRIS:

11562/1029658

ultima modifica:

28 novembre 2022

Citazione bibliografica:

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

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