Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases-Reference-Cited by-同舟云学术

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

Published:2023-10 Issue:4 Volume:152 Page:1025-1031.e2
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Berner Jakob,van de Wetering Cheryl,Jimenez Heredia Raul,Rashkova Christina,Ferdinandusse Sacha,Koster Janet,Weiss Johannes G.,Frohne Alexandra,Giuliani Sarah,Waterham Hans R.,Castanon Irinka,Brunner Jürgen,Boztug Kaan^ORCID

Funder

ERC

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference25 articles.

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4. Twists and turns of the genetic story of mevalonate kinase-associated diseases: a review;Touitou;Genes Dis,2022

5. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome;Haas;Orphanet J Rare Dis,2006

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1. Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches;Advances in Rheumatology;2024-08-22

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