Background The development of high performance studies evaluating gene expression generated strong demand for biorepositories linked to clinical databases. Juvenile autoimmune diseases provides a unique opportunity to study genetic factors involved in breaking tolerance with minimal influence of environmental factors and represent privileged models for unraveling components of the pathogenesis of these diseases1-3.
Objectives To establish a repository of samples associated with clinical-laboratorial data from infants, children and adolescents with organ-specific and systemic autoimmune diseases.
Methods The biorepository organizational structure complies with legislation and all clinical-laboratorial data are standard accessed, coded and transferred to a computerized database. Collecting and storing samples are based on a quality management system. Samples are identified by a barcode to ensure the confidentiality, and the vials are stored systematically to guarantee that all aliquots can be found. The link between the samples and the patient’s clinical-laboratorial data are maintained by the developed software2.
Results The biorepository has, to date, enrolled approximately twenty percent of the estimated cohort of 1,200 children with diagnoses of organ-specific and systemic autoimmune diseases, providing at minimum twice the number of stored vials containing serum, plasma and DNA samples. The patients enrolled are: 82 with juvenile systemic lupus erythematosus, including one with type 1 diabetes mellitus, one with autoimmune hepatitis, one with C1q deficiency, two with C2 deficiency and two with dermatomyositis; 44 with juvenile dermatomyositis, of them one with scleroderma and one with type 1 diabetes; 14 with type 1 diabetes mellitus, including two with celiac disease, one with celiac disease and thyroiditis and one with autoimmune hepatitis and thyroiditis; 16 with celiac disease; 32 with inflammatory bowel disease; 18 with immune thrombocytopenic purpura and 10 with juvenile idiopathic arthritis. Furthermore, the biorepository is currently participating in a thematic research project and is available for institutional research teams.
Conclusions The pioneer initiative of establishing the first Brazilian biorepository associated with clinical-laboratorial data of infants, children and adolescents with autoimmune diseases will promote advances in clinical research as well as illuminate investigations of the common genetic causal factors and better understanding frequencies, associations and modes of inheritance.
Carneiro-Sampaio M, et al. Understanding Systemic Lupus Erythematosus Physiopathology in Light of Primary Immunodeficiencies. J Clin Immunol. 2008; 28:S34-S41;
Campos AHJFM, et al. The value of a tumor bank in the development of câncer research in Brazil: 13 years of experience at the AC Camargo Hospital. Biopreservation and biobanking. 2012;10(2):168–73;
Cooper GS, Stroehla BC. The epidemiology of autoimmune diseases. Autoimmun Rev. 2003;2:119-25. Financial support:FAPESP grant 2008/58238-4.
Disclosure of Interest None Declared