Análisis de la asociación de HLA DRB1-DQB1 y autoanticuerpos en familias con Síndrome Poliendocrino Autoinmune (APS)

the aps is the association of autoimmune endocrine diseases, with other non-endocrine autoimmune disorders, named mayor and minor components. this syndrome was classified in 4 types. the alterations of the immune response cause regulatory faults; and hla polymorphisms, among others; taken in conjunction with acquired or permanent factors, these represent triggers of autoimmunity. our objective was to find out the association of hla-drb1*-dqb1* in individuals belonging to two families, with diagnosis in at least one of them aps, or with isolated autoimmune diseases. to determine serum antibodies: a21-oh, agad and atpo and to observe the association with hla haplotype. we have studied parents and offspring of two families, two members who suffered aps type 2 and 3, and others with autoimmune diseases. we have looked for hla-drb1*-dqb1* and quantified a21-oh, atpo and agad. patients with aps 2 and 3 showed hla-drb1*0301-dqb1*0201. among the population we have studied, 5/9 had this hla haplotype and at least one positive auto antibody. we have found the genetic factor in 2/3 of the members with autoimmune diseases corresponding to greater components. the observed relation between aps and hla-drb1*0301-dqb1*0201, increases the possibility of identifying people at risk of catching autoimmune affections in familiar groups in which at least one member suffers aps.