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immunodeficiency, hemophagocytic lymphohistiocytosis, LYST, SNP-array, uniparental disomy, loss of heterozygosity 2021-03-29T10:38:58+08:00 2021-03-29T10:34:16+08:00 Arbortext Advanced Print Publisher 10.0.1306/W Unicode 2021-03-29T10:38:58+08:00 application/pdf 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 Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Mireia Boluda-Navarro Mariam Ibáñez Alessandro Liquori Clara Franco-Jarava M&oacute nica Mart&iacute nez-Gallo Héctor Rodr&iacute guez-Vega Jaijo Teresa Carmen Carreras Esperanza Such &Aacute ngel Z&uacute ñiga Roger Colobran José Vicente Cervera Ch&eacute diak-Higashi syndrome CHS primary immunodeficiency hemophagocytic lymphohistiocytosis LYST SNP-array uniparental disomy loss of heterozygosity uuid:6531b1f9-2eb5-462b-a805-afd63f895ddb 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