Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists’ lens

Donato Rigante, Marco Cattalini, Martina Soliani, Giuseppe Lopalco, Luca Cantarini

Risultato della ricerca: Contributo in rivistaArticolo in rivista

10 Citazioni (Scopus)

Abstract

Monogenic autoinflammatory disorders (AIDs) are rare diseases driven by cytokine-mediated extraordinary sterile inflammation that results from the activation of innate immune pathways. The clinical hallmark of these diseases is the recurrence of stereotyped episodes of systemic- and organ-specific inflammation; the most common systems involved being the skin, musculoskeletal system, gastrointestinal tract, and central nervous system. The autoinflammatory disorders may have a profound impact on the quality of life of the affected patients, and a delayed diagnosis may lead to severe complications, the most dreadful of which is AA-Amyloidosis. This review gives an overview on the four main AIDs, namely familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, cryopyrinopathies, and mevalonate kinase deficiency, focusing on their clinical phenotype in adults and differential diagnosis, suggesting a diagnostic algorithm, and reviewing the available treatments.
Lingua originaleEnglish
pagine (da-a)781-791
Numero di pagine11
RivistaINTERNAL AND EMERGENCY MEDICINE
Volume2016
DOI
Stato di pubblicazionePubblicato - 2016

Keywords

  • Autoinflammation

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