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Autoinflammatory diseases in childhood, part 1: monogenic syndromes

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Abstract

Autoinflammatory diseases constitute a family of disorders defined by aberrant stimulation of inflammatory pathways without involving antigen-directed autoimmunity. They may be divided into monogenic and polygenic types. Monogenic autoinflammatory syndromes are those with identified genetic mutations, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency or hyperimmunoglobulin D syndrome, cryopyrin-associated periodic fever syndromes (CAPS), pyogenic arthritis pyoderma gangrenosum and acne (PAPA) syndrome, interleukin-10 and interleukin-10 receptor deficiencies, adenosine deaminase 2 deficiency and pediatric sarcoidosis. Those without an identified genetic mutation are known as polygenic and include systemic-onset juvenile idiopathic arthritis, idiopathic recurrent acute pericarditis, Behçet syndrome, chronic recurrent multifocal osteomyelitis and inflammatory bowel disease among others. Autoinflammatory disorders are defined by repeating episodes or persistent fever, rash, serositis, lymphadenopathy, arthritis and increased acute phase reactants, and thus may mimic infections clinically. Most monogenic autoinflammatory syndromes present in childhood. However, because of their infrequency, diverse and nonspecific presentation, and the relatively new genetic recognition, diagnosis is usually delayed. In this article, which is Part 1 of a two-part series, the authors update monogenic autoinflammatory diseases in children with special emphasis on imaging features that may help establish the correct diagnosis.

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Authors and Affiliations

  1. Department of Radiology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2. 08950 Esplugues de Llobregat, Barcelona, Spain

    María Navallas, Emilio J. Inarejos Clemente & Mónica Rebollo-Polo

  2. Department of Medical Imaging, University of Toronto, Toronto, ON, Canada

    María Navallas & Oscar M. Navarro

  3. Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada

    María Navallas & Oscar M. Navarro

  4. Department of Rheumatology, Hospital Sant Joan de Déu, Barcelona, Spain

    Estíbaliz Iglesias

  5. Department of Radiology, UKM Medical Center, Kuala Lumpur, Malaysia

    Faizah Mohd Zaki

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  1. María Navallas
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  2. Emilio J. Inarejos Clemente
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  3. Estíbaliz Iglesias
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Correspondence to María Navallas.

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Navallas, M., Inarejos Clemente, E.J., Iglesias, E. et al. Autoinflammatory diseases in childhood, part 1: monogenic syndromes. Pediatr Radiol 50, 415–430 (2020). https://doi.org/10.1007/s00247-019-04536-9

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