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Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study

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Journal of Clinical Immunology Aims and scope Submit manuscript

An Erratum to this article was published on 14 June 2012

Abstract

Objective

To evaluate the prevalence of genetic defects in clinically suspected autoinflammatory syndromes (AIS) in a Brazilian multicenter study.

Methods

The study included 102 patients with a clinical diagnosis of Cryopyrin Associated Periodic Syndromes (CAPS), TNF Receptor Associated Periodic Syndrome (TRAPS), Familial Mediterranean Fever (FMF), Mevalonate Kinase Deficiency (MKD) and Pediatric Granulomatous Arthritis (PGA). One of the five AIS-related genes (NLRP3, TNFRSF1A, MEFV, MVK and NOD2) was evaluated in each patient by direct DNA sequencing, based on the most probable clinical suspect.

Results

Clinical diagnoses of the 102 patients were: CAPS (n = 28), TRAPS (n = 31), FMF (n = 17), MKD (n = 17) and PGA (n = 9). Of them, 27/102 (26 %) had a confirmed genetic diagnosis: 6/28 (21 %) CAPS patients, 7/31 (23 %) TRAPS, 3/17 (18 %) FMF, 3/17 (18 %) MKD and 8/9 (89 %) PGA.

Conclusion

We have found that approximately one third of the Brazilian patients with a clinical suspicion of AIS have a confirmed genetic diagnosis.

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Acknowledgments

This study was supported by Fundação de Amparo à Pesquisa do Estado de São Paulo – FAPESP (grants 2008/58866-5 and 2009/12334-5), Conselho Nacional de Desenvolvimento Científico e Tecnológico – CNPQ (grant 300248/2008-3 to CAS) and Federico Foundation Grant to CAS. We thank the following pediatric rheumatologists and pediatricians and their respective services for sample referral: Nadyesda D. Brandão (Universidade Federal de Santa Catarina), Ana Paula Vecchi (Hospital Materno-Infantil de Goiânia), Maria Custodia M. Ribeiro and Fabio Tadeu M. Oliveira (Universidade de Brasília), Erica N. Naka and Izaias P. Costa (Universidade Federal do Mato Grosso do Sul), Katia Lino (Universidade Federal Fluminense), Maria Virginia Andrade (Hospital das Clínicas da Faculdade de Medicina de Marília), Silvana B. Sacchetti (Irmandade da Santa Casa de Misericórdia de São Paulo), Simone Lotufo (Hospital Municipal Menino Jesus), Ana Julia P. Moraes (Universidade Federal do Pará), Tereza C Robazzi (Universidade Federal da Bahia), Claudia Saad-Magalhães (Universidade Estadual de São Paulo-Botucatu) and Mayra B. Dorna (Instituto da Criança da FMUSP). We also thank Paolo Zanotto (Laboratório de Evolução Molecular e Bioinformática, ICBII, USP, José Eduardo Krieger (Laboratório de Genética e Cardiologia Molecular, FMUSP), Claudio Panutti (Laboratório de Virologia, FMUSP), Silvia Figueiredo Costa (Laboatório de Bacteriologia, FMUSP) and Suzane Ono-Nita (Laboratório de Gastroenterologia Clínica e Experimental) for the use of equipments.

Author information

Authors and Affiliations

  1. Instituto da Criança da FMUSP, Sao Paulo, SP, Brazil

    Adriana A. Jesus & Magda Carneiro-Sampaio

  2. LIM 56 and LIM 53 da FMUSP, São Paulo, SP, Brazil

    Erika Fujihira

  3. LIM 56 da FMUSP, São Paulo, SP, Brazil

    Mariana Watase & Dewton Moraes-Vasconcelos

  4. Universidade Federal de São Paulo, São Paulo, SP, Brazil

    Maria T. Terreri, Maria O. Hilario & Claudio A. Len

  5. IPPMG da UFRJ, Rio de Janeiro, RJ, Brazil

    Sheila K. Oliveira & Marta C. Rodrigues

  6. Disciplina de Reumatologia da FMUSP, São Paulo, SP, Brazil

    Rosa M. Pereira

  7. Disciplina de Reumatologia da UFRJ, Rio de Janeiro, RJ, Brazil

    Blanca Bica

  8. Serviço de Reumatologia da Faculdade de Medicina da Universidade Federal de Goiás, Goiânia, Brazil

    Nilzio A. Silva

  9. Universidade Federal de Pernambuco, Recife, PE, Brazil

    Andre Cavalcanti

  10. Universidade Estadual de Campinas, Campinas, SP, Brazil

    Roberto Marini

  11. Universidade Estadual do Rio de Janeiro, Rio de Janeiro, RJ, Brazil

    Flavio Sztajnbok

  12. Santa Casa de Misericórdia de Belo Horizonte, Belo Horizonte, MG, Brazil

    Maria V. Quintero

  13. FMUSP-Ribeirão Preto, Ribeirão Preto, SP, Brazil

    Virginia P. Ferriani

  14. Instituto da Criança, HC da Faculdade de Medicina da Universidade de São Paulo, Av. Dr. Enéas Carvalho de Aguiar 647, São Paulo, SP, 05403000, Brazil

    Clovis A. Silva

  15. Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bldg. 10 Room 2C410, 10 Center Drive, Bethesda, MD, 20814, USA

    Joao B. Oliveira

Authors
  1. Adriana A. Jesus
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  2. Erika Fujihira
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  3. Mariana Watase
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  4. Maria T. Terreri
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  5. Maria O. Hilario
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  6. Magda Carneiro-Sampaio
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  8. Sheila K. Oliveira
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  12. Nilzio A. Silva
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  13. Andre Cavalcanti
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  14. Roberto Marini
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  15. Flavio Sztajnbok
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  16. Maria V. Quintero
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  17. Virginia P. Ferriani
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  18. Dewton Moraes-Vasconcelos
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  19. Clovis A. Silva
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  20. Joao B. Oliveira
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Corresponding authors

Correspondence to Clovis A. Silva or Joao B. Oliveira.

Additional information

Adriana A. Jesus, and Erika Fujihira, Clovis A. Silva and Joao B. Oliveira contributed equally to this work.

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Jesus, A.A., Fujihira, E., Watase, M. et al. Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study. J Clin Immunol 32, 922–932 (2012). https://doi.org/10.1007/s10875-012-9688-x

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  • DOI: https://doi.org/10.1007/s10875-012-9688-x

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