Cytokine signatures in hereditary fever syndromes (HFS)

• Published in: Cytokine & growth factor reviews Vol. 33; pp. 19 - 34
• Main Authors: Ibrahim, José Noel, Jéru, Isabelle, Lecron, Jean-Claude, Medlej-Hashim, Myrna
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.02.2017
• Subjects: Advanced Basic Science; Animals; Cells, Cultured; Cryopyrin-Associated Periodic Syndromes - immunology; Cryopyrin-Associated Periodic Syndromes - metabolism; Cytokines; Cytokines - blood; Cytokines - genetics; Cytokines - immunology; ex vivo; Familial Mediterranean Fever - immunology; Familial Mediterranean Fever - metabolism; Hereditary Autoinflammatory Diseases - immunology; Hereditary Autoinflammatory Diseases - metabolism; Hereditary fever syndromes; Humans; Immunity, Innate; Inflammasomes - metabolism; Interleukin-1beta - metabolism; Leukocytes, Mononuclear - immunology; Lipopolysaccharides - immunology; Mevalonate Kinase Deficiency; Mice; PBMC; Serum; Nuclear factor kappa-light-chain-enhancer of activated B cells; TRAPS; RANK; hematopoietic expression, interferon-inducible nature, and nuclear localization; NLRP12-associated disorders; AP-1; double stranded DNA; TNF; CARD; myeloid differentiation primary response gene 88; autoinflammatory disorders; 3-hydroxy-3-methylglutaryl CoA; HFS; PI3K; type III secretion system; Serum; PLA 2; tumor necrosis factor receptor superfamily, member 1A; PBMC; ras-related C3 botulinum toxin substrate 1; FCU; polymorphonuclear neutrophils; TRIF; tumor necrosis factor receptor-associated periodic syndrome; DITRA; cryopyrin-associated periodic syndromes; soluble IL-2 receptor; serum smyloid A; ASC; DIRA; TRAPS11; NLR; MBL; PYD; Muckle-Wells syndrome; FMF; CC; erythrocyte sedimentation rate; peripheral blood mononuclear cells; Transcript; ESR; apoptosis-associated speck-like protein containing a caspase recruitment domain; MKD; soluble TNF receptors; HIN; ex vivo; absent in melanoma 2; HIDS; tumor necrosis factor; adenosine triphosphate; ATP; MYD88; C-reactive protein; IL-1 receptor antagonist; ALR; ICAM-1; intercellular adhesion molecule 1; LRR; mevalonate kinase deficiency; FCAS; nucleotide-binding oligomerization domain; NF-κB; activator protein 1; familial cold autoinflammatory syndrome; hereditary fever syndromes; major histocompatibility complex, MHC class-I-chain-related type A; deficit in IL-1 receptor antagonist; familial Mediterranean fever; RAC1; hyperimmunoglobulinemia D syndrome; NOD; sTNFr; IL-1RA; Cytokines; pyrin domain; PKB; TNFRSF1A; AIM2–like receptor; SAA; AIM2; IL-1R1; NOMID; ROS; phosphoinositide-3-kinase; mevalonate kinase; dsDNA; CRP; familial cold urticarial; MVK; coiled coil; chronic infantile neurological cutaneous and articular syndrome; AIDs; deficit in IL-36 receptor antagonist; sIL-2R; CINCA; reactive oxygen species; T3SS; IL-1 receptor type I; MICA; receptor activator of NF-κB; TNFRSF11A-associated disorder; protein kinase B; NLRP12AD; leucin rich repeat; nod-like receptor; phospholipase A 2; MWS; HMG-CoA; PBMCs; caspase recruitment domain; TIR-domain-containing adapter-inducing interferon-β; danger-associated molecular pattern; PMN; mannose binding lectin; neonatal onset multisystemic inflammatory disease; CAPS; DAMP; PLA2; Hereditary fever syndromes
• ISSN: 1359-6101; 1879-0305
• DOI: 10.1016/j.cytogfr.2016.11.001

Highlights • The current review reports a number of advances in the field of inflammatory/immunological mechanisms underlying HFS, and 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 in which CAPS, NLRP12AD and FMF were now classified as inflammasomopathies, HIDS/MKD as metabolic dysregulation leading to IL-1β secretion, and TRAPS and the last HFS identified to date, TRAPS11, as protein misfolding disorders. • Cytokine signatures obtained in patients’ cells cultured ex vivo are much more convincing than results obtained at the transcriptional levels or in sera. • Elevated levels of acute phase reactants and pro-inflammatory cytokines in remission periods confirm the involvement of the cytokine network in the inflammatory process and provide evidence for the ongoing subclinical inflammation during asymptomatic periods of HFS. • The marked increase of IL-1β production by LPS-stimulated PBMCs observed in CAPS and NLRP12AD, but also in FMF and MKD, is a hallmark of these disorders.