☆ 4.7 Review

Syndrome of Undifferentiated Recurrent Fever (SURF): An Emerging Group of Autoinflammatory Recurrent Fevers

JOURNAL OF CLINICAL MEDICINE (2021)

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Summary: In this study, phenotype-genotype correlations in unclassified autoinflammatory disease (AID) patients were investigated using whole exome sequencing (WES), revealing disease-causing genetic variants in a subset of patients. The WES strategy proved to be cost-effective and yielded substantial results for the undefined AID patients, contributing to the understanding of the spectrum of unclassified AIDs.

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Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study

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Summary: An increasing number of monogenic immune-mediated diseases are linked to genes associated with actin cytoskeleton remodeling pathways. These diseases range from pure autoinflammatory conditions to primary immunodeficiencies, with a common theme of cytoskeleton defects. This emerging field provides immunologists with new insights into the physiological and pathological roles of actin cytoskeleton in immune cells.

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Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases

Betul Sozeri et al.

Summary: This study found that clinical diagnostic criteria may not always be sufficient to establish the correct diagnosis, with a low accordance between clinical diagnoses and molecular analyses. In cases of patients with preliminary diagnosis of monogenic SAID and negative target gene analysis, other autoinflammatory diseases should also be considered in the differential diagnosis.

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Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases

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Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond

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Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

Nienke M. Ter Haar et al.

ANNALS OF THE RHEUMATIC DISEASES (2019)

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Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases

Guilaine Boursier et al.

JOURNAL OF CLINICAL MEDICINE (2019)

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Efficacy and safety of anakinra for undifferentiated autoinflammatory diseases in children: a retrospective case review

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Clinical and Genetic Profile of Children with Periodic Fever Syndromes from a Single Medical Center in South East Michigan

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Review Immunology

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

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