Polymorphisms in the TGFB1 and FOXP3 genes are associated with the presence of antinuclear antibodies in chronic hepatitis C
HELIYON
Authors: Costa de Castro, Geison Luiz; Bichara, Carlos David A.; Santiago, Angelica Menezes; de Brito, William Botelho; Soares Pereira, Leonn Mendes; Ferreira Moura, Tuane Carolina; Graca Amoras, Ednelza da Silva; Moura de Araujo, Mauro Sergio; Souza da Silva Conde, Simone Regina; Freitas Queiroz, Maria Alice; Ishak, Ricardo; Rosario Vallinoto, Antonio Carlos
Abstract
Chronic infection with Hepacivirus C (HCV) can lead to the occurrence of antinuclear antibodies (ANAs) and changes in cytokine profiles that can be similar to autoimmune diseases. The aim of the study was to identify polymorphisms in important mediators of the immune response in association with ANAs, which could contribute to the development of autoimmunity in hepatitis C. The study included 87 patients with chronic hepatitis C who were evaluated for the presence of ANA (indirect immunofluorescence) and for polymorphisms in the FOXP3, IFNG, IL6, IL8, IL10, MBL2, CRP, TGFB1 and TNFA genes (real-time PCR). Of the patients evaluated, 17 (19.54%) had ANA reactivity. The G allele of the FOXP3 rs2232365 polymorphism was more frequent in ANA-positive women (p = 0.0231; OR = 3,285). The C allele of the TGFB1 rs1800469 polymorphism was associated with ANA production (p = 0.0169; OR = 2.88). The results suggest that polymorphisms in genes related to immunological regulation may be associated with mechanisms that lead to the emergence of autoantibodies in the context of chronic Hepacivirus C infection.
Fludarabine-based reduced-intensity conditioning regimen for hematopoietic stem cell transplantation in pediatric patient with IL10 receptor deficiency
PEDIATRIC TRANSPLANTATION
Authors: Kheder, Maged; Behfar, Maryam; Farajifard, Hamid; Ali, Tahani; Abou Fakher, Faihaa Hkima; Hamidieh, Amir Ali
Abstract
IL-10R deficiency results in severe immune dysregulation. Herein, we describe the successful treatment of a girl aged 6.8 years with IL10R deficiency by using RIC prior to HSCT from a matched unrelated donor. The regimen was well tolerated, the engraftment was completely attained. On a follow-up of 7 months, the patient remained in good medical conditions with full donor chimerism. All complications before HSCT were completely resolved and her growth was accelerated. RIC regimen might be adequate to induce permanent engraftment and avoid severe organ toxicity in IL-10R deficiency patients.