Phenotype variability of autoinflammatory disorders in the pediatric patient: A pictorial overview.
Acquired Immunodeficiency Syndrome
/ pathology
Autoimmune Diseases
/ pathology
Child
Cryopyrin-Associated Periodic Syndromes
/ pathology
Familial Mediterranean Fever
/ pathology
Hereditary Autoinflammatory Diseases
/ pathology
Humans
Inflammation
/ pathology
Mevalonate Kinase Deficiency
/ pathology
Phenotype
Skin
/ pathology
autoinflammation
autoinflammatory disorder
child
innovative biotechnologies
interleukin-1
pediatrics
periodic fever
personalized medicine
recurrent fever
Journal
Journal of evidence-based medicine
ISSN: 1756-5391
Titre abrégé: J Evid Based Med
Pays: England
ID NLM: 101497477
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
received:
08
05
2020
accepted:
05
06
2019
pubmed:
7
7
2020
medline:
13
7
2021
entrez:
7
7
2020
Statut:
ppublish
Résumé
Disruption of innate immunity leading to systemic inflammation and multi-organ dysfunction is the basilar footprint of autoinflammatory disorders (AIDs), ranging from rare hereditary monogenic diseases to a large number of common chronic inflammatory conditions in which there is a simultaneous participation of multiple genetic components and environmental factors, sometimes combined with autoimmune phenomena and immunodeficiency. Whatever their molecular mechanism, hereditary AIDs are caused by mutations in regulatory molecules or sensors proteins leading to dysregulated production of proinflammatory cytokines or cytokine-inducing transcription factors, fever, elevation of acute phase reactants, and a portfolio of manifold inflammatory signs which might occur in a stereotyped manner, mostly with overactivity or misactivation of different inflammasomes. Symptoms might overlap in the pediatric patient, obscuring the final diagnosis of AIDs and delaying the most appropriate treatment. Actually, the fast-paced evolution of scientific knowledge has led to recognize or reclassify an overgrowing number of multifactorial diseases, which share the basic pathogenetic mechanisms with AIDs. The wide framework of classic hereditary periodic fevers, AIDs with prominent skin involvement, disorders of the ubiquitin-proteasome system, defects of actin cytoskeleton dynamics, and also idiopathic nonhereditary febrile syndromes occurring in children is herein presented. Interleukin-1 dependence of these diseases or involvement of other predominating molecules is also discussed.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
227-245Informations de copyright
© 2020 Chinese Cochrane Center, West China Hospital of Sichuan University and John Wiley & Sons Australia, Ltd.
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