Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
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 mutation...
| Published in: | Pediatric Radiology Vol. 50; no. 3; pp. 415 - 431 |
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| Main Authors: | , , , , , |
| Format: | review Journal Article |
| Published: |
Springer Nature
Mar2020
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| Online Access: | View this record in EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=141772372&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 141772372 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 03010449 O03 jtl: Pediatric Radiology issn: 03010449 maglogo: N pubinfo: dt: Mar2020 vid: 50 iid: 3 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 141772372 141772372 NLM32065272 141772372 10.1007/s00247-019-04536-9 NLM32065272 141772372 ppf: 415 ppct: 16 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Autoinflammatory diseases in childhood, part 1: monogenic syndromes. aug: au: Navallas, María Inarejos Clemente, Emilio J. Iglesias, Estíbaliz Rebollo-Polo, Mónica Zaki, Faizah Mohd Navarro, Oscar M. affil: Department of Radiology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2. 08950 Esplugues de Llobregat, Barcelona, Spain sug: subj: Hereditary Autoinflammatory Diseases Diagnostic Imaging Methods Male Female Syndrome Adolescence Child, Preschool Infant Child Scales Arthritis Impact Measurement Scales Adolescent: 13-18 years Child, Preschool: 2-5 years Infant: 1-23 months Child: 6-12 years Male Female ab: 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. pubtype: Academic Journal doctype: review Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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