CD4(+)CD25(high)Foxp3(+) Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis

Author(s)

Matta, Marina Cadena ^[1] ; Soares, Diogo Cordeiro ^[2] ; Kerstenetzky, Marcelo Soares ^[3] ; Pinto Freitas, Augustus Cesar ^[4] ; Kim, Chong Ae ^[2] ; Torres, Leuridan Cavalcante ^[1]

Affiliation

^[1] Inst Med Integral Prof Fernando Figueira IMIP, Translat Res Lab Prof CA Hart, Rua Coelhos, 300, POB 1393, BR-50070550 Recife, PE - Brazil

^[2] Univ Sao Paulo, Fac Med, Inst Crianca, Med Genet Unit, Sao Paulo - Brazil

^[3] Inst Med Integral Prof Fernando Figueira IMIP, Ctr Treatment Inborn Errors Metab, BR-50070550 Recife, PE - Brazil

^[4] Hosp Barao Lucena, Nephrol Unit, Recife, PE - Brazil

• Document type: Journal article
• Source: HUMAN IMMUNOLOGY; v. 77, n. 2, p. 196-200, FEB 2016.
• Web of Science Citations: 6

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(+)CD25(high)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. (C) 2015 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved. (AU)