Systemic autoinflammatory diseases in pediatric population

doi:10.5415/apallergy.2022.12.e29

. 2022 Jul 18;12(3):e29.

doi: 10.5415/apallergy.2022.12.e29. eCollection 2022 Jul.

Systemic autoinflammatory diseases in pediatric population

Maria Luís Marques¹, Inês Machado Cunha², Sérgio Alves³, Margarida Guedes³, Carla Zilhão³

Affiliations

¹ Allergy and Clinical Immunology Department, Hospital da Senhora da Oliveira, Guimarães,Portugal.
² Allergy and Clinical Immunology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.
³ Pediatric Rheumatology Unit, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal.

PMID: 35966154
PMCID: PMC9353204
DOI: 10.5415/apallergy.2022.12.e29

Systemic autoinflammatory diseases in pediatric population

Maria Luís Marques et al. Asia Pac Allergy. 2022.

. 2022 Jul 18;12(3):e29.

doi: 10.5415/apallergy.2022.12.e29. eCollection 2022 Jul.

Authors

Maria Luís Marques¹, Inês Machado Cunha², Sérgio Alves³, Margarida Guedes³, Carla Zilhão³

Affiliations

¹ Allergy and Clinical Immunology Department, Hospital da Senhora da Oliveira, Guimarães,Portugal.
² Allergy and Clinical Immunology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.
³ Pediatric Rheumatology Unit, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal.

PMID: 35966154
PMCID: PMC9353204
DOI: 10.5415/apallergy.2022.12.e29

Abstract

Background: Systemic autoinflammatory diseases (SAID) are monogenic and polygenic inherited conditions characterized by dysregulation of the innate immune system.

Objective: We aimed to characterize the clinical features of patients with SAID.

Methods: This study was a retrospective chart review on the clinical and genetic features of the pediatric population with SAID observed from 1998 to 2020 in our center.

Results: A total of 54 patients were evaluated: 18 with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome; 16 with Behçet disease; 13 with systemic juvenile idiopathic arthritis; 4 with syndrome of undifferentiated recurrent fever; 1 with cryopyrin associated periodic syndrome; 1 with chronic nonbacterial osteomyelitis; and 1 with Muckle-Wells syndrome.

Conclusion: The analysis of clinical features of our patients are similar to other studies. Our goal was to aware the medical community to early recognize and treat SAID to improve quality of life of pediatric patients.

Keywords: Behçet disease; Child; Clinical symptoms; Genetic testing; Systemic Juvenile idiopathic arthritis; Treatment.

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Conflict of interest statement

Conflict of Interest: The authors have no financial conflicts of interest.

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[1] McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O’Shea JJ, Kastner DL. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97:133–144. - PubMed

[2] McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O’Shea JJ, Kastner DL. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97:133–144. - PubMed

[3] Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO) Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019;78:1025–1032. - PubMed

[4] Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO) Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019;78:1025–1032. - PubMed

[5] Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, Martini A. Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol. 2008;28(Suppl 1):S73–S83. - PubMed

[6] Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, Martini A. Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol. 2008;28(Suppl 1):S73–S83. - PubMed

[7] Nigrovic PA, Lee PY, Hoffman HM. Monogenic autoinflammatory disorders: conceptual overview, phenotype, and clinical approach. J Allergy Clin Immunol. 2020;146:925–937. - PMC - PubMed

[8] Nigrovic PA, Lee PY, Hoffman HM. Monogenic autoinflammatory disorders: conceptual overview, phenotype, and clinical approach. J Allergy Clin Immunol. 2020;146:925–937. - PMC - PubMed

[9] Hashkes PJ, Laxer RM, Simon A, editors. Textbook of autoinflammation [Internet] Cham: Springer International Publishing; 2019. [cited 2020 May 4]. Available from: http://link.springer.com/10.1007/978-3-319-98605-0. - DOI

[10] Hashkes PJ, Laxer RM, Simon A, editors. Textbook of autoinflammation [Internet] Cham: Springer International Publishing; 2019. [cited 2020 May 4]. Available from: http://link.springer.com/10.1007/978-3-319-98605-0. - DOI

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Systemic autoinflammatory diseases in pediatric population

Affiliations

Systemic autoinflammatory diseases in pediatric population

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Affiliations

Abstract

Conflict of interest statement

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Conflict of interest statement

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