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

Matteo Chinello, Margherita Mauro, Gaetano Cantalupo, Giacomo Talenti, Sara Mariotto, Rita Balter, Massimiliano De Bortoli, Virginia Vitale, Ada Zaccaron, Elisa Bonetti, Daniela Di Carlo, Federica Barzaghi, Simone Cesaro

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number580963
JournalFrontiers in Pediatrics
Volume8
DOIs
Publication statusPublished - Oct 16 2020
Externally publishedYes

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of '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'. Together they form a unique fingerprint.

Cite this