Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)-Reference-Cited by-同舟云学术

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Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)

Published:2016-03 Issue:1 Volume:2 Page:e000196
ISSN:2056-5933
Container-title:RMD Open
language:en
Short-container-title:RMD Open

Author:

Messer Laurent,Alsaleh Ghada,Georgel Philippe,Carapito Raphael,Waterham Hans R,Dali-Youcef Nassim,Bahram Siamak,Sibilia Jean

Publisher

BMJ

Subject

Immunology,Immunology and Allergy,Rheumatology

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Experience on the long‐term use of canakinumab in mevalonate kinase deficiency: A case series;International Journal of Rheumatic Diseases;2024-05

2. Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype;Frontiers in Immunology;2024-03-14

3. A case of neonatal sweet syndrome associated with mevalonate kinase deficiency;Pediatric Rheumatology;2023-09-12

4. A Case of Neonatal Sweet Syndrome Associated with Mevalonate Kinase Deficiency;2023-05-24

5. Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency;Journal of Clinical Investigation;2022-10-03

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