Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.
Female
Genetic Predisposition to Disease
Hereditary Autoinflammatory Diseases
/ diagnosis
Humans
Immunity, Innate
/ genetics
Inflammasomes
/ immunology
Male
Mutation
NLR Family, Pyrin Domain-Containing 3 Protein
/ genetics
Prognosis
Rare Diseases
Receptor-Interacting Protein Serine-Threonine Kinases
/ genetics
Risk Assessment
Schnitzler Syndrome
/ diagnosis
Survival Analysis
A20 haploinsufficiency
NLRP3-related autoinflammatory diseases
RELA haploinsufficiency
Schnitzler’s syndrome
pyrin-associated autoinflammatory diseases
relopathies
Journal
Rheumatology (Oxford, England)
ISSN: 1462-0332
Titre abrégé: Rheumatology (Oxford)
Pays: England
ID NLM: 100883501
Informations de publication
Date de publication:
01 11 2019
01 11 2019
Historique:
received:
23
03
2019
revised:
09
08
2019
entrez:
27
11
2019
pubmed:
27
11
2019
medline:
9
4
2020
Statut:
ppublish
Résumé
The systemic autoinflammatory diseases are disorders of the innate immune system distinguished by severe inflammation resulting from dysregulation of the innate immune system. Hereditary fever syndromes, such as FMF, TNF receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes and mevalonate kinase deficiency, were the first group of systemic autoinflammatory diseases for which a genetic basis was established, between 1999 and 2001. Currently according to the latest report of the international union of immunological societies, 37 separate monogenic disorders were classified as autoinflammatory. In addition to the abovementioned monogenic conditions, we describe Schnitzler's syndrome, a well-defined, acquired autoinflammatory condition without a clear genetic basis. For the purposes of this review, we discuss several conditions defined by the latest consensus process as systemic autoinflammatory diseases. We focus on those disorders where recent studies have contributed to further phenotypic characterization or had an impact on clinical management.
Identifiants
pubmed: 31769858
pii: 5643740
doi: 10.1093/rheumatology/kez448
pmc: PMC6878846
doi:
Substances chimiques
Inflammasomes
0
NLR Family, Pyrin Domain-Containing 3 Protein
0
NLRP3 protein, human
0
RIPK1 protein, human
EC 2.7.11.1
Receptor-Interacting Protein Serine-Threonine Kinases
EC 2.7.11.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
vi31-vi43Informations de copyright
© The Author(s) 2019. Published by Oxford University Press on behalf of the British Society for Rheumatology.
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