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

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...

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Bibliographic Details
Main Authors: Mireia Boluda-Navarro, Mariam Ibáñez, Alessandro Liquori, Clara Franco-Jarava, Mónica Martínez-Gallo, Héctor Rodríguez-Vega, Jaijo Teresa, Carmen Carreras, Esperanza Such, Ángel Zúñiga, Roger Colobran, José Vicente Cervera
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Immunology
Subjects:
Chédiak-Higashi syndrome
CHS
primary immunodeficiency
hemophagocytic lymphohistiocytosis
LYST
SNP-array
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.625591/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2021.625591/full

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