Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases

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Monogenic autoinflammatory diseases.

During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system. Diagnosis remains clinical, with genetic confirmation where feasible. Although a group of pat...

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The expanding spectrum of rare monogenic autoinflammatory diseases

Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery of the first causative gene in 1997 was rapidly followed by the identification of many others from the same group. The mutated proteins can be directly or indirectly involved in the regulat...

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Altered cytokine pattern and inflammatory pathways in monogenic and complex autoinflammatory diseases

Results Interleukin (IL)-17, IL-22, and IL-23 were all significantly raised in our cohort of AIDs compared to controls, whereas IL-1b, IL-6, IL-8, and TNF-a levels were differently heighten among the diseases. Thus, the cytokine pattern may help to distinguish the AIDs in term of number of enhanced cytokines, as follow BS<TRAPS<FMF<AOSD. Moreover, the upregulation of Th17-related cytokines may ...

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Biological therapies in monogenic autoinflammatory diseases: long-term efficacy and safety

Introduction Autoinflammatory diseases (AIDs) represent a group of monogenic disorders, related to mutations in genes encoding proteins involved in the regulation of inflammatory responses. The aims of therapy in AIDs patients are controlling disease activity, improving patient’s quality of life and preventing long-term complications. Biological agents have recently changed the natural history ...

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Monogenic and multifactorial autoinflammatory diseases: Clinical and laboratory characterization in a pediatric Saudi population

Methods This retrospective report comprised all children with autoinflammatory diseases treated at the Pediatric Rheumatology Clinic at King Faisal Specialist Hospital and Research Center, Riyadh, between January 2000 and December 2014. Demographic characteristics, diagnosis, age at onset, disease duration, follow-up duration, clinical features and laboratory variables including genetic results...

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ژورنال

عنوان ژورنال: Frontiers in Immunology

سال: 2019

ISSN: 1664-3224

DOI: 10.3389/fimmu.2019.02448