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Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review

BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disease (PID) characterized by a regulatory T cell defect resulting in immune dysregulation and autoimmunity. We present two siblings born to consanguineous parents of North African descent with LRBA...

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Detalles Bibliográficos
Autores principales: Mangodt, T. C., Vanden Driessche, K., Norga, K. K., Moes, N., De Bruyne, M., Haerynck, F., Bordon, V., Jansen, A. C., Jonckheere, A. I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339488/
https://www.ncbi.nlm.nih.gov/pubmed/37443020
http://dx.doi.org/10.1186/s12887-023-04182-z