ABSTRACT
Celiac disease is strongly associated with HLA DQ, specifically with haplotypes. DRB1*03-DQA1*05:01/DQB1*02:01 (DQ2.5),DRB1*07-DQA1*02:01/DQB1*02:02 (DQ2.2), DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), and DRB1*04-DQA1*03:01/DQB1*03:02 (DQ8). The distribution of these risk haplotypes in patients with celiac disease is different in the geographical areas investigated. A high frequency of DRB1*07- DQA1*02:01/DQB1*02:02 (DQ2.2) and DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), has been described in Southern Europe. We analyzed 2102 confirmed CD cases with information on both DQB1* alelles and their distribution by geographical area in Spain. According to the presence of this haplotype in one or two chromosomes, the genotype is classified in: DQ2 homozygous, DQ2 heterozygous (cis or trans), DQ8 homozygous, DQ8/DQ2.5, DQ 2.2 homozygous and genotype known as "half DQ2". Two different patterns of risks related to CD were identified. In the Basque Country and Navarre, the Mediterranean Area (Aragon, Catalonia, Valencia, Balearic Islands, and Murcia), the South of Spain (Andalucía and Extremadura), and the Canary Islands, higher frequency of DQ2.5 trans, and more than 80% of DQ2.5/DQ2.2 homozygosis were described. The Cantabrian Coast (Cantabria, Asturias, and Galicia) and Central Areas (Castilla-León and Castilla-La Mancha) showed a higher percentage of DQ2.5/DQ2.5 homozygosis and a lower DQ2.5 in trans frequency, as in Northern Europe. Madrid has an intermediate model between the two described above. 17 cases (0.8%) did not carry any CD risk haplotypes.
Subject(s)
Celiac Disease , HLA-DQ Antigens , Humans , Child , Spain/epidemiology , HLA-DQ Antigens/genetics , Celiac Disease/genetics , Genetic Predisposition to Disease , Alleles , Genotype , Haplotypes , HLA-DQ beta-Chains/genetics , HLA-DQ alpha-Chains/geneticsABSTRACT
The burden of tuberculosis after pediatric solid organ transplant or hematopoietic stem cell transplantation has not been well characterized. We report 7 pediatric cases with disseminated (4/7) or pulmonary (3/7) tuberculosis after solid organ transplant (n=6) or hematopoietic stem cell transplantation (n=1) during 26 years. The outcome was favorable in 6 patients. Isoniazid-induced hepatitis and rifampin interactions were common.
Subject(s)
Hematopoietic Stem Cell Transplantation/adverse effects , Organ Transplantation/adverse effects , Transplantation , Tuberculosis/diagnosis , Adolescent , Antitubercular Agents/administration & dosage , Child , Child, Preschool , Female , Humans , Immunocompromised Host , Male , Treatment Outcome , Tuberculosis/drug therapy , Young AdultABSTRACT
The interferon-gamma release assays have greater specificity than the tuberculin skin test (TST), and at least equal sensitivity. We analyzed the sensitivity and specificity of the TST in immunocompetent children considering QuantiFERON as the referent standard. A TST cut-off point of ≥ 5 mm indicates excellent sensitivity (100%) and specificity (93%) in children without Bacillus Calmette-Guérin. In Bacillus Calmette-Guérin-vaccinated children, the TST cut-off point of ≥ 10 mm had poorer specificity (86%), and a cut-off point of ≥ 15 mm resulted in reduced sensitivity (60%).
