Inmunodeficiencia variable común y déficit selectivo de inmunoglobulina A en pacientes celiacos / Common variable immunodeficiency and selective IgA deficiency in celiac disease patients

La enfermedad celíaca (EC) es una de las enfermedades autoinmunes gastrointestinales que con más frecuencia se asocia a inmunodeficiencias primarias (IDP) como el déficit selectivo de IgA y la inmunodeficiencia variable común (IDVC). A propósito del vínculo entre IDP y celiaquía, se presentan dos pacientes femeninas diagnosticadas como celíacas con formas de presentación diferentes y compromiso inmunonutricional variable. Las bajas concentraciones de inmunoglobulina G (IgG) y la ausencia de IgA fueron los principales hallazgos humorales registrados, no se evidenció compromiso de células B y T, de acuerdo a la cuantificación de subpoblaciones linfoides por citometria de flujo. La intervención nutricional e inmunológica permitió la remisión de las manifestaciones clínicas y la evolución satisfactoria en ambos casos(AU)

Celiac disease (CD) is an autoimmune gastrointestinal disease very often associated with Primary Immunodeficiencies (PID) as selective IgA deficiency and variable immunodeficiency common. About the link between celiac disease IDP, two female patients diagnosed as celiac patients with different forms of presentation and varying commitment immunonutritional presented. Low levels of immunoglobulin G (IgG) and absence of immunoglobulin A (IgA) were the main humoral findings recorded, no commitment of B and T cells, according to the quantification of lymphoid subpopulations by flow cytometry. Nutritional and immunological intervention allowed remission of clinical manifestations and satisfactory outcome in both cases(AU)

Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers.

We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in order to evaluate admixture using uniparental markers. Finally, we analyzed the association of 16 single nucleotide polymorphisms (SNPs) with quantitative estimates of skin pigmentation. In the total sample, the average European, African and Native American contributions as estimated from autosomal AIMs were 72%, 20% and 8%, respectively. The Eastern provinces of Cuba showed relatively higher African and Native American contributions than the Western provinces. In particular, the highest proportion of African ancestry was observed in the provinces of Guantánamo (40%) and Santiago de Cuba (39%), and the highest proportion of Native American ancestry in Granma (15%), Holguín (12%) and Las Tunas (12%). We found evidence of substantial population stratification in the current Cuban population, emphasizing the need to control for the effects of population stratification in association studies including individuals from Cuba. The results of the analyses of uniparental markers were concordant with those observed in the autosomes. These geographic patterns in admixture proportions are fully consistent with historical and archaeological information. Additionally, we identified a sex-biased pattern in the process of gene flow, with a substantially higher European contribution from the paternal side, and higher Native American and African contributions from the maternal side. This sex-biased contribution was particularly evident for Native American ancestry. Finally, we observed that SNPs located in the genes SLC24A5 and SLC45A2 are strongly associated with melanin levels in the sample.