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
10.3389/fimmu.2021.625591
Front Immunol
2021 Mar 31;12:625591.
chs chédiak-higashi syndrome lyst snp-array hemophagocytic lymphohistiocytosis loss of heterozygosity primary immunodeficiency uniparental disomy
CC BY
https://pubmed.ncbi.nlm.nih.gov/33868243/
Chediak-Higashi Syndrome / genetics Mutation Uniparental Disomy Vesicular Transport Proteins / genetics
Chediak-Higashi Syndrome / genetics Mutation Uniparental Disomy Vesicular Transport Proteins / genetics Case Reports Research Support, Non-U.S. Gov't Chediak-Higashi Syndrome / diagnosis Chediak-Higashi Syndrome / therapy Child, Preschool Female Genetic Predisposition to Disease Heredity Homozygote Humans Loss of Heterozygosity Molecular Diagnostic Techniques Mothers Pedigree Phenotype Severity of Illness Index LYST protein, human Vesicular Transport Proteins
PMC8044466
33868243
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
2021