Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

Syndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The genetic basis of these immunodeficiencies is highly diverse, ranging from monogenic defects to large chromosomal aberrations. Antibody deficiency...

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Bibliographic Details
Main Authors: Clara Franco-Jarava, Irene Valenzuela, Jacques G. Riviere, Marina Garcia-Prat, Mónica Martínez-Gallo, Romina Dieli-Crimi, Neus Castells, Laura Batlle-Masó, Pere Soler-Palacin, Roger Colobran
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Immunology
Subjects:
primary immunodeficiencies
syndromic immunodeficiencies
common variable immunodeficiency
nfkb1
chromosomal rearrangements
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.897975/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2022.897975/full

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