A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation-Reference-Cited by-同舟云学术

A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation

Published:2023-01 Issue:1 Volume:90 Page:105490
ISSN:1297-319X
Container-title:Joint Bone Spine
language:en
Short-container-title:Joint Bone Spine

Author:

Yıldız Çisem,Gezgin Yıldırım Deniz,Inci Asli,Tümer Leyla,Cengiz Ergin Filiz Basak,Sunar Yayla Emine Nur Sunar,Esmeray Şenol Pelin,Karaçayır Nihal,Eğritaş Gürkan Ödül,Okur Ilyas,Ezgü Fatih S.,Bakkaloğlu Sevcan A.

Publisher

Elsevier BV

Subject

Rheumatology

Reference12 articles.

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2. The clinical chameleon of autoinflammatory diseases in children;Sangiorgi;Cells,2022

3. Management of mevalonate kinase deficiency: a pediatric perspective;Jeyaratnam;Frontiers Immunol,2020

4. The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the Eurofever registry;Ter Haar;Arthrit Rheumatol,2016

5. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis;Zhang;Nat Genet,2012

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1. A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper‐IgD syndrome‐like phenotype;Clinical Genetics;2023-11-28

2. Porokeratoses—A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants;Metabolites;2023-11-26

3. Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases;Journal of Allergy and Clinical Immunology;2023-10

4. Update on autoinflammatory diseases;Current Opinion in Rheumatology;2023-07-06

5. Crosstalk between cholesterol metabolism and psoriatic inflammation;Frontiers in Immunology;2023-05-10