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This study was performed to assess the association of CCR5Δ32 and SDF1-3'A polymorphisms with immunological recovery failure and to investigate the influence of sociodemographic and clinical data on immune reconstitution in human immunodeficiency virus (HIV)-positive patients during antiretroviral therapy (ART). Two hundred and forty-eight HIV-positive patients under ART with undetectable plasma viral load (40 copies/mL) were enrolled in this study and classified into two groups according to their CD4+ T-cell count changes: immunological responders (CD4+ T-cell count gain ≥ 200/µL or ≥ 30% compared with baseline) and immunological non-responders (CD4+ T-cell count gain 200/µL or 30% compared with baseline). DNA extraction was performed followed by CCR5Δ32 and SDF1-3'A genotyping. Sociodemographic and clinical data were evaluated from medical records. The logistic regression model showed that heterozygosity for CCR5Δ32 allele and lower pre-treatment CD4+ T-cell count (500 cells/µL) were statistically associated with immunological recovery failure (OR = 5.873, 95%CI = 1.204-28.633, P = 0.028 and OR = 10.00, 95%CI = 3.224-31.016, P = 0.028, respectively). No association of SDF1-3'A polymorphism with immune reconstitution failure was found. Additionally, we observed that there was a statistically significant difference between lower CD4+ T-cell count and INR status than the IR group (Z = 4.687, P 0.001). Our results demonstrated, through a logistic regression model, that CCR5Δ32 polymorphism and pre-treatment CD4+ T-cell count have significant influence on immune reconstitution of HIV-positive patients during ART. These findings highlight some immunological factors associated with poor CD4+ T-lymphocytes recovery, which affect immune response level of ART-treated HIV-positive patients.

Inflammatory Bowel disease (IBD) is a widespread pathological condition with clinical heterogeneity and with different levels of severity. Although IBD usually occurs in young adults, onset in childhood and infancy are described in patients within the 10th and second year of age. By genome-wide association studies and meta-analysis, several genetic loci have been identified associated with an increased risk of developing IBD in Western populations with variants that may alter the normal mucosal immunity in the gastrointestinal tract. The clinical complexity and the heterogeneity of the IBD phenotype probably reflect the presence of genetic heterogeneity where different genes or combinations of them may be involved, together with environmental factors. We hypothesized that patients with early onset IBD could have either more severe genetic variants in genes associated with IBD or multiple variants in different genes. Under the multifactorial diseases is crucial to consider the small contribution of a single variant in all not only to other small variations in the same gene but also in different genes belonging to the same pathway. We performed direct gene sequencing looking for 94 variations in NOD2, ATG16L1, IL23R, IL10R, IL10 and XIAP genes previously shown as correlated with IBD both in multifactorial and in Mendelian models. All variants identified are known in literature as being associated with IBD except for three variants in the genes NOD2, IL10 and IL10RB that even though present in online databases have never been involved in association studies on IBD patients. Moreover, we coupled genetic variants identification with an accurate "in silico" analysis to verify their predictive impact on the protein structure and function. The in-silico prediction of these variants results as benign therefore even if they exhibit a very low frequency in control population being benign, they cannot be considered pathogenic as monogenic disease but fall within the multifactorial range. The variants identified in our study partially reflect the association data described in the literature but there are no significant differences with the onset of disease (VEO vs EO-IBD).

Systemic lupus erythematosus (SLE) is an autoimmune disorderwith several clinicalmanifestations. SLE etiology has a strong genetic component, which plays a key role in disease's predisposition, as well as participation of environmental factors, such and UV light exposure. In this regard, we investigated whether polymorphisms in STK17A, a DNA repair related gene, encoding for serine/threonine-protein kinase 17A, are associated with SLE susceptibility. A total of 143 SLE patients and 177 healthy controls from Southern Brazil were genotyped for five STK17A TagSNPs. Our results indicated association of rs7805969 SNP (A and G/A genotype, OR = 1.40 and OR = 1.73, respectively) with SLE predisposition and the following clinical manifestations: arthritis, cutaneous and immunological alterations. When analyzing haplotypes distribution, we found association between TGGTC, TAGTC and AAGAT haplotypes and risk to develop SLE. When considering clinical manifestations, the haplotypes TGGTT and TAGTC were associated with protection against cutaneous alterations and the haplotype TAGTC to hematological alterations. We also observed association between SLE clinical manifestations and ethnicity, with the European-derived patients being more susceptible to cutaneous and hematological alterations.