title: [Autoimmune diseases and autoantibodies in pediatric patients and their first-degree relatives with immunoglobulin A deficiency].
abstract: BACKGROUND
  Clinical manifestations of Immunoglobulin A Deficiency (IgAD) include recurrent infections, atopy and autoimmune diseases. However, to our knowledge, the concomitant evaluations of autoimmune diseases and autoantibodies in a cohort of IgAD patients with current age > 10 years-old and their relatives have not been assessed.
  
  
  OBJECTIVE
  To evaluate autoimmune diseases and the presence of autoantibodies in IgAD patients and their first-degree relatives.
  
  
  METHODS
  A cross-sectional study was performed in 34 IgAD patients (current age > 10 years-old) and their first-degree relatives. All of them were followed at a tertiary Brazilian primary immunodeficiency center: 27 children/adolescents and 7 of their first-degree relatives with a late diagnosis of IgAD. Autoimmune diseases and autoantibodies (antinuclear antibodies, rheumatoid factor, and anti-thyroglobulin, anti-thyroperoxidase and IgA class anti-endomysial antibodies) were also assessed.
  
  
  RESULTS
  Autoimmune diseases (n=14) and/or autoantibodies (n=10, four of them with isolated autoantibodies) were observed in 18/34 (53%) of the patients and their relatives. The most common autoimmune diseases found were thyroiditis (18%), chronic arthritis (12%) and celiac disease (6%). The most frequent autoantibodies were antinuclear antibodies (2%), anti-thyroglobulin and/or anti-thyroperoxidase (24%). No significant differences were observed in the female gender, age at diagnosis and current age in IgAD patients with and without autoimmune diseases and/or presence of autoantibodies (p>0.05). The frequencies of primary immunodeficiency's in family, autoimmunity in family, atopy and recurrent infections were similar in both groups (p>0.05).
  
  
  CONCLUSIONS
  Autoimmune diseases and autoantibodies were observed in IgAD patients during follow-up, reinforcing the necessity of a rigorous and continuous follow-up during adolescence and adulthood.
authors.affiliation: Unidade de Alergia Pediátrica e Imunologia, Departamento de Pediatria, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
authors.forename: Kristine
authors.initials: K
authors.lastname: Fahl
authors.affiliation: Unidade de Reumatologia Pediátrica, Departamento de Pediatria, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil; Divisão de Reumatologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
authors.forename: Clovis A
authors.initials: CA
authors.lastname: Silva
authors.affiliation: Unidade de Alergia Pediátrica e Imunologia, Departamento de Pediatria, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
authors.forename: Antonio C
authors.initials: AC
authors.lastname: Pastorino
authors.affiliation: Unidade de Alergia Pediátrica e Imunologia, Departamento de Pediatria, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
authors.forename: Magda
authors.initials: M
authors.lastname: Carneiro-Sampaio
authors.affiliation: Unidade de Alergia Pediátrica e Imunologia, Departamento de Pediatria, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil. Electronic address: miuki55@uol.com.br.
authors.forename: Cristina M A
authors.initials: CM
authors.lastname: Jacob
mesh_terms: D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000097:blood*; D001327:Autoimmune Diseases / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D017098:IgA Deficiency / Q000097:blood* / Q000235:genetics / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D055815:Young Adult
chemical_list: D001323:Autoantibodies
keywords: Autoantibodies; Autoanticorpos; Autoimmunity; Autoimunidade; Deficiência de IgA; IgA deficiency; Thyroiditis; Tireoidite