title: Human leukocyte antigen class I and MICA haplotypes in a multicase family with Cladophialophora carrionii chromoblastomycosis.
abstract: Previous studies carried out in an endemic semiarid region northwest of Venezuela at Falcon State have shown a prevalence of 15.4/1000 of chromoblastomycosis following traumatisms with xenophile vegetation infected with Cladophialophora carrionii. We performed high-resolution DNA typing of human leukocyte antigen (HLA)-A, -B and -C and major histocompatibility complex class I chain related gene A (MICA) alleles and segregation analysis in 49 members of one extended family with 12 affected individuals, who have lived for approximately 70 years in this endemic zone. None of the alleles, haplotypes or genotypes is shared by all the patients. No deviation from the expected HLA haplotype distribution or association of chromoblastomycosis with HLA-A, -B and -C haplotypes was observed. Further, a haplotype-sharing transmission/disequilibria testing of 11 nuclear families did not give enough evidence to claim linkage (P = 0.398), suggesting that genes located in the short arm of chromosome 6 may not be relevant in the immune response toward infection with C. carrionii in this Venezuelan endemic zone. Deleted MICA alleles on HLA-B*4802 haplotypes were present among several members of the extended family, but only two of them were affected.
authors.affiliation: Postgrado de Medicina Interna, Hospital General del Oeste, Universidad Central de Venezuela, Venezuela.
authors.forename: F
authors.initials: F
authors.lastname: Naranjo
authors.forename: I
authors.initials: I
authors.lastname: Márquez
authors.forename: K
authors.initials: K
authors.lastname: Gendzekhadze
authors.forename: S
authors.initials: S
authors.lastname: Zhang
authors.forename: M
authors.initials: M
authors.lastname: Fernández-Mestre
authors.forename: F
authors.initials: F
authors.lastname: Yegres
authors.forename: N
authors.initials: N
authors.lastname: Richard-Yegres
authors.forename: T
authors.initials: T
authors.lastname: Navas
authors.forename: S
authors.initials: S
authors.lastname: Montagnani
authors.forename: V
authors.initials: V
authors.lastname: Ogando
authors.forename: Z
authors.initials: Z
authors.lastname: Layrisse
mesh_terms: D000483:Alleles; D001203:Ascomycota / Q000276:immunology*; D002862:Chromoblastomycosis / Q000235:genetics / Q000276:immunology*; D020090:Chromosome Segregation; D005260:Female; D006680:HLA Antigens / Q000235:genetics / Q000276:immunology*; D006239:Haplotypes; D015395:Histocompatibility Antigens Class I / Q000235:genetics / Q000276:immunology*; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D006680:HLA Antigens; D015395:Histocompatibility Antigens Class I; C099187:MHC class I-related chain A