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CD4+ CD25high Foxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritisMatta, Marina Cadena; Soares, Diogo Cordeiro; Kerstenetzky, Marcelo Soares; Freitas, Augustus Cesar Pinto; Kim, Chong Ae; Torres, Leuridan Cavalcante
Human immunology, 2015, Letnik: 77, Številka: 2Journal Article
Abstract Gaucher Disease (GD) is a rare autosomal recessive disorder caused by the deficient activity of beta-glucocerebrosidase. GD is one of the lysosomal storage diseases with the most remarkable alterations in the immune system, and that may manifest clinically as autoimmune disorders and malignancy. We reported the immunological evaluation of a patient with GD and lupus nephritis. Decreased absolute values of T, and NK, and an inversion of CD4+ /CD8+ ratio, low levels of IgM and normal B cells were found when compared to reference values in a Brazilian population. Absence ofCD4+ CD25high Foxp3+ Treg and high levels of total NKT, iNKT cells and CD8+ iNKT subsets were also observed when compared to the healthy control and GD patient without lupus nephritis. Treg subset and CD8+ iNKT abnormalities might be involved in severe lupus nephritis in a GD patient. We conclude by emphasizing the importance of the immunological evaluation on early diagnosis of autoimmunity contributing to reduce mortality and morbidity of these patients.
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