Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inher...

Descripción completa

Detalles Bibliográficos
Autores principales: Boluda-Navarro, Mireia, Ibáñez, Mariam, Liquori, Alessandro, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Rodríguez-Vega, Héctor, Teresa, Jaijo, Carreras, Carmen, Such, Esperanza, Zúñiga, Ángel, Colobran, Roger, Cervera, José Vicente
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8044466/
https://www.ncbi.nlm.nih.gov/pubmed/33868243
http://dx.doi.org/10.3389/fimmu.2021.625591

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8044466/
https://www.ncbi.nlm.nih.gov/pubmed/33868243
http://dx.doi.org/10.3389/fimmu.2021.625591

Ejemplares similares