title: CD4+CD25 high Foxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis.
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.
authors.affiliation: Translational Research Laboratory Prof. C. A. Hart, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil.
authors.forename: Marina Cadena
authors.initials: MC
authors.lastname: Matta
authors.affiliation: Medical Genetics Unit, Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Diogo Cordeiro
authors.initials: DC
authors.lastname: Soares
authors.affiliation: Center for Treatment of Inborn Errors of Metabolism, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil.
authors.forename: Marcelo Soares
authors.initials: MS
authors.lastname: Kerstenetzky
authors.affiliation: Nephrology Unit, Hospital Barão de Lucena, Recife, Brazil.
authors.forename: Augustus Cesar Pinto
authors.initials: AC
authors.lastname: Freitas
authors.affiliation: Medical Genetics Unit, Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
authors.affiliation: Translational Research Laboratory Prof. C. A. Hart, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil. Electronic address: leuridan.torres@gmail.com.
authors.forename: Leuridan Cavalcante
authors.initials: LC
authors.lastname: Torres
mesh_terms: D000328:Adult; D001402:B-Lymphocytes / Q000276:immunology*; D001938:Brazil; D005260:Female; D051858:Forkhead Transcription Factors / Q000378:metabolism; D005776:Gaucher Disease / Q000235:genetics / Q000276:immunology*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007075:Immunoglobulin M / Q000097:blood; D053645:Interleukin-2 Receptor alpha Subunit / Q000378:metabolism; D007694:Killer Cells, Natural / Q000276:immunology*; D008181:Lupus Nephritis / Q000235:genetics / Q000276:immunology*; D055611:Natural Killer T-Cells / Q000276:immunology*; D050378:T-Lymphocytes, Regulatory / Q000276:immunology*
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; D007075:Immunoglobulin M; D053645:Interleukin-2 Receptor alpha Subunit; D005962:Glucosylceramidase
keywords: Gaucher disease; Invariant natural killer T cells; Lupus nephritis; Regulatory T cells