The autoinflammatory diseases.

Silvia Federici, Roberta Caorsi, Marco Gattorno

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

The monogenic autoinflammatory syndromes are conditions caused by mutations of genes coding for proteins that play a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these disorders have an early onset. Clinically they are characterised by recurrent flares of systemic inflammation presenting most of the time as sudden fever episodes associated with elevation of acute phase reactants and with a number of clinical manifestations such as rash, serositis, lymphadenopathy and arthritis. Symptom-free intervals are characterised by complete wellbeing, normal growth and complete normalisation of acute phase reactants. Familial Mediterranean fever (FMF), mevalonate-kinase deficiency (MKD) and tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) are the three monogenic disorders subsumed under the term periodic fevers, while a systemic inflammation dominated by a characteristic urticarial rash associated with a number of other clinical manifestations is typical of familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurological cutaneous and articular syndrome (CINCA). These diseases represent the clinical spectrum of different mutations of a gene named cold-induced autoinflammatory syndrome 1 (CIAS-1, or NLRP3) coding for a protein called cryopyrin. Hence these disorders are also known as cryopyrin-associated periodic syndromes (CAPS). Other conditions are characterised by typical granulomatous formations (granulomatous disorders). Blau's syndrome (familial juvenile systemic granulomatosis) presents with non-caseating granulomatous inflammation affecting the joint, skin, and uveal tract (the triad of arthritis, dermatitis and uveitis) and is associated with mutations of the NACHT domain of the gene CARD15 (or NOD2).

Original languageEnglish
JournalSwiss Medical Weekly
Volume142
Publication statusPublished - 2012

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Cryopyrin-Associated Periodic Syndromes
Acute-Phase Proteins
Exanthema
Inflammation
Mutation
Arthritis
Mevalonate Kinase Deficiency
Fever
Serositis
Familial Mediterranean Fever
Uveitis
Dermatitis
Genes
Proteins
Joints
Skin
Growth

ASJC Scopus subject areas

  • Medicine(all)

Cite this

The autoinflammatory diseases. / Federici, Silvia; Caorsi, Roberta; Gattorno, Marco.

In: Swiss Medical Weekly, Vol. 142, 2012.

Research output: Contribution to journalArticle

Federici, S, Caorsi, R & Gattorno, M 2012, 'The autoinflammatory diseases.', Swiss Medical Weekly, vol. 142.
Federici, Silvia ; Caorsi, Roberta ; Gattorno, Marco. / The autoinflammatory diseases. In: Swiss Medical Weekly. 2012 ; Vol. 142.
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