IMMUNOGENETICS OF CELIAC DISEASE AND DERMATITIS HERPETIFORMIS: ANTIGENS HLA AND REGARDING POSSIBLE CLONAL LYMPHOCYTE RESPONSE T.Author:
BALAS PEREZ ANTONIO.
Year:
2003.
University:
COMPLUTENSE DE MADRID [
www.ucm.es].
Place of defense: FACULTAD DE CIENCIAS BIOLOGICAS.
Place of preparation: CENTRO DE TRANSFUSIÓN DE MADRID.
Summary: Celiac disease (CD) and dermatitis herpetiformis (DH) are two pathologies immune desencadenas by the same agent, the gluten. The CD is characterized by the progressive villous atrophy of the small intestine that triggers a process of absorption associated with a poor clinical symptomatology that early age is characterized by a pattern of diarrhea, vomiting and parking growth. The DH is a skin disease characterized by the appearance of eruptions papilomatosas. A high percentage of patients with DH develop a process of mild enteropathy. In this paper thesis dóctoral have studied two populations of pediatric CD patients (n = 333) and DH (n = 55) diagnosed in a single clinical center. On these two populations was conducted characterization of the HLA antigen system in order to determine their possible association compared with the data of the Spanish population controls (n = 929). Similarly, intestinal biopsies were obtained from patients in the diagnosis of CD as well as individuals without enteropathy with a view to determining the existence of a response donal T lymphocytes infiltrantes. The study of HLA genes is done through serological and molecular techniques through PCR-SSO and sequencing. The characterization of populations of T lymphocytes was performed using PCR-SSP for each of the families of genes TCRBV. Also, studies were undertaken to espectratipo and sequencing of the region CDR3. From the data obtenidosse can conclude. - There partnership of the two pathologies cO, nantígenos HLA-A29, ..- A30, -B8, -B18, -DR7 Y-DR17 being however, the association HLA-DQ2 which presents a primary character. There is a differential distribution in both populations for haplotypes containing antigen DQ2. The molecular analysis of genes DQA1 and DQB1 shows that the 94% and 100% of patients with CD and DH pre ~ entan genes DQA1 * 05 and DQB1 * 02. The remaining 6% of patients with CD, presented genes DQA1 * O3-DQB1 * O302o well at least one of the major susceptibility gene Da. - It shows the existence of a positive effect dose of the gene DQA1 * 02 AND negative for the gene DQA1 * 05. - The study of the portfolio TCRBV in diagnostic biopsies showed no clonal expansion, with a pattern of increased oligoclonalidad than in control samples.