LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the LRBA gene (OMIM #614700). It was initially characterized as producing early-onset hypogammaglobulinemia, autoimmune manifestations, susceptibility to inflammatory bowel disease, and re...

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Bibliographic Details
Main Authors: Pere Soler-Palacín, Marina Garcia-Prat, Andrea Martín-Nalda, Clara Franco-Jarava, Jacques G. Rivière, Alberto Plaja, Daniela Bezdan, Mattia Bosio, Mónica Martínez-Gallo, Stephan Ossowski, Roger Colobran
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-10-01
Series:Frontiers in Immunology
Subjects:
primary immunodeficiency
LRBA deficiency
uniparental disomy
whole exome sequencing
comparative genomic hybridization array
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2018.02397/full

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https://www.frontiersin.org/article/10.3389/fimmu.2018.02397/full

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