title: [B27-negative spondylarthritis. Results of 3 familial surveys, with monozygotic twins in one].
abstract: With the typing of the major histocompatibility complex (HLA, A, C, B, Bf, C4, DR, GLO), the authors study three (3) family investigations of patients suffering from primary ankylosing spondylarthritis, B27 negative, including one concerning a discordant pair of monozygotic female twins. The possible links between the patient's haplotypes and the phenotypic expression of their ankylosing spondylarthritis, B27 negative, is discussed: a complotype (C4 A4 B2) and 2 antigens (B18 and Bw62) from the group B35 CREG over-represented in ankylosing spondylarthritis (Family n degree 1): presence of antigen B40 of B7 CREG in the patient of Family n degree 2, contrasting with the presence of antigen B27 in 2 first-degree parents, apparently healthy; presence of antigen B7 from the B7 CREG and the possible role of an environmental factor in the discordant monozygotic female twins (Family n degree 3). The results are compared to the studies of families with ankylosing spondylarthritis, B27 negative, of monozygotic twins and discordant ankylosing spondylarthritis-antigen B27 reported in the literature. Pathogenetic implications are discussed (linked gene hypothesis, direct role and/or heterogeneity of B27).
mesh_terms: D000328:Adult; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D015796:HLA-B27 Antigen; D015793:HLA-B7 Antigen; D006684:HLA-DR Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013167:Spondylitis, Ankylosing / Q000235:genetics*; D014427:Twins; D014430:Twins, Monozygotic
chemical_list: D006680:HLA Antigens; D015796:HLA-B27 Antigen; D015793:HLA-B7 Antigen; D006684:HLA-DR Antigens
vernacular_title: Les spondylarthrites B27 négatives. Résultats de trois enquêtes familiales dont une avec jumeaux monozygotes.