Cytokine signatures in hereditary fever syndromes (HFS). (February 2017)

• Record Type: Journal Article
• Authors: Ibrahim, José Noel; Jéru, Isabelle; Lecron, Jean-Claude; Medlej-Hashim, Myrna
• Is Part Of: Cytokine & growth factor reviews. Volume 33(2017)
• Page Start: 19
• Page End: 34
• Publication Date: 2017-02
• Subjects: AIDs autoinflammatory disorders -- AIM2 absent in melanoma 2 -- ALR AIM2–like receptor -- AP-1 activator protein 1 -- ASC apoptosis-associated speck-like protein containing a caspase recruitment domain -- ATP adenosine triphosphate -- CAPS cryopyrin-associated periodic syndromes -- CARD caspase recruitment domain -- CC coiled coil -- CINCA chronic infantile neurological cutaneous and articular syndrome -- CRP C-reactive protein -- DAMP danger-associated molecular pattern -- DIRA deficit in IL-1 receptor antagonist -- DITRA deficit in IL-36 receptor antagonist -- dsDNA double stranded DNA -- ESR erythrocyte sedimentation rate -- FCAS familial cold autoinflammatory syndrome -- FCU familial cold urticarial -- FMF familial Mediterranean fever -- HFS hereditary fever syndromes -- HIDS hyperimmunoglobulinemia D syndrome -- HIN hematopoietic expression, interferon-inducible nature, and nuclear localization -- HMG-CoA 3-hydroxy-3-methylglutaryl CoA -- ICAM-1 intercellular adhesion molecule 1 -- IL-1R1 IL-1 receptor type I -- IL-1RA IL-1 receptor antagonist -- LRR leucin rich repeat -- MBL mannose binding lectin -- MKD mevalonate kinase deficiency -- MVK mevalonate kinase -- MWS Muckle-Wells syndrome -- MICA major histocompatibility complex, MHC class-I-chain-related type A -- MYD88 myeloid differentiation primary response gene 88 -- NF-κB Nuclear factor kappa-light-chain-enhancer of activated B cells -- NLR nod-like receptor -- NLRP12AD NLRP12-associated disorders -- NOD nucleotide-binding oligomerization domain -- NOMID neonatal onset multisystemic inflammatory disease -- PBMCs peripheral blood mononuclear cells -- PI3K phosphoinositide-3-kinase -- PKB protein kinase B -- PLA2 phospholipase A2 -- PMN polymorphonuclear neutrophils -- PYD pyrin domain -- RAC1 ras-related C3 botulinum toxin substrate 1 -- RANK receptor activator of NF-κB -- ROS reactive oxygen species -- SAA serum smyloid A -- sIL-2R soluble IL-2 receptor -- sTNFr soluble TNF receptors -- TNF tumor necrosis factor -- TNFRSF1A tumor necrosis factor receptor superfamily, member 1A -- TRAPS tumor necrosis factor receptor-associated periodic syndrome -- TRAPS11 TNFRSF11A-associated disorder -- TRIF TIR-domain-containing adapter-inducing interferon-β -- T3SS type III secretion system; Hereditary fever syndromes -- Cytokines -- Serum -- PBMC -- ex vivo -- Transcript; Cytokines -- Periodicals; 571.84
• DOI: 10.1016/j.cytogfr.2016.11.001
• Languages: English
• ISSNs: 1359-6101

Abstract

Highlights: The current review presents all available data regarding the cytokines' signatures in HFS at the transcriptional, serum and ex vivo levels. It also integrates recent data in an updated classification of the different HFS: CAPS, NLRP12AD, FMF, HIDS/MKD, TRAPS and TRAPS11. Cytokine signatures in patients' cells cultured ex vivo are much more convincing than results obtained at the transcriptional levels or in sera. Pro-inflammatory cytokines are involved in the inflammatory process of HFS, even during remission periods. The marked increase of IL-1β production by LPS-stimulated PBMCs observed in CAPS, NLRP12AD, FMF and MKD, is a hallmark of these disorders. Abstract: Hereditary fever syndromes (HFS) include a group of disorders characterized by recurrent self-limited episodes of fever accompanied by inflammatory manifestations occurring in the absence of infection or autoimmune reaction. Advances in the genetics of HFS have led to the identification of new gene families and pathways involved in the regulation of inflammation and innate immunity. The key role of several cytokine networks in the pathogenesis of HFS has been underlined by several groups, and supported by the rapid response of patients to targeted cytokine blocking therapies. This can be due to the direct effect of cytokine overproduction or to an absence of receptor antagonist resulting in dysbalance of downstream pro- and anti-inflammatory cytokine networks. The aim of this study was to present an overview and to discuss the major concepts regarding the cellular and molecular immunology of HFS, with a particular focus on their specific cytokine signatures and physiopathological implications. Based on their molecular and cellular mechanisms, HFS have been classified into intrinsic and extrinsic IL-1β activation disorders or inflammasomopathies, and protein misfolding disorders. This review integrates all recent data in an updated classification of HFS.