Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.

Authors:
Berner J; van de Wetering C; Jimenez Heredia R; Rashkova C; Ferdinandusse S and 8 more

Journal:
J Allergy Clin Immunol

Publication Year: 2023

DOI:
10.1016/j.jaci.2023.06.013

PMCID:
PMC10549927

PMID:
37364720

View on PubMed View on PMC View Publisher
Journal Information

Full Title: J Allergy Clin Immunol

Abbreviation: J Allergy Clin Immunol

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Allergy and Immunology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Related Papers from Same Journal
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ; Bignucolo O; Seki S and 34 more (2023) - Transparency Score: 3/6
Development of mouse models with restricted HLA-B∗57:01 presentation for the study of flucloxacilli…
Ananthula S; Krishnaveni Sivakumar K; Cardone M and 6 more (2023) - Transparency Score: 3/6
Eosinophils promote effector functions of lung group 2 innate lymphoid cells in allergic airway inf…
LeSuer WE; Kienzl M; Ochkur SI and 7 more (2023) - Transparency Score: 4/6
Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and m…
Bucciol G; COVID Human Genetic Effort; Meyts I. (2023) - Transparency Score: 3/6
Phospholipid remodeling and its derivatives are associated with COVID-19 severity.
Wei J; Liu X; Xiao W and 13 more (2023) - Transparency Score: 3/6
View All Papers from This Journal
Transparency Score
3/6
50.0% Transparent
Transparency Indicators
Click on green indicators to view evidence text
Core Indicators
Data Sharing
Code Sharing
Evidence found in paper:

"Disclosure statement This project has received funding from the 10.13039/501100000781European Research Council under the European Union's Horizon 2020 Research and Innovation Programme (ERC Consolidator grant agreement 820074 to K.B.). C.vdW. has been supported by a postdoctoral fellowship from the P.T. Engelhorn Foundation. Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest."

Evidence found in paper:

"This project has received funding from the 10.13039/501100000781European Research Council under the European Union's Horizon 2020 Research and Innovation Programme (ERC Consolidator grant agreement 820074 to K.B.). C.vdW. has been supported by a postdoctoral fellowship from the P.T. Engelhorn Foundation."

Protocol Registration
Open Access
Paper is freely available to read
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025