NLRP12-associated autoinflammatory disease A novel causal mutation and bioinformatics analyses

NLRP12-associated autoinflammatory disease : A novel causal mutation and bioinformatics analyses

Copyright © 2024 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 265(2024) vom: 01. Juli, Seite 110278
1. Verfasser: Li, Zhonghua (VerfasserIn)
Weitere Verfasser: Zhi, Qi, Li, Jiahuang, Zhu, Bo
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2024
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Case Reports Gene mutation Molecular docking NLRP12 NLRP12-AID Single-cell sequencing NLRP12 protein, human Intracellular Signaling Peptides and Proteins
Beschreibung
Zusammenfassung:Copyright © 2024 Elsevier Inc. All rights reserved.
Nucleotide-binding leucine-rich repeat-containing receptor 12-associated autoinflammatory disease (NLRP12-AID) is a rare autosomal dominant disorder. In this study, we reported a case of this rare disease with a novel NLRP12 mutation (A218V, rs749659859). The patient displayed typical symptoms, including recurrent fever, arthralgia, and skin allergies. Elevated serum IgE, decreased apolipoprotein A1, high-density lipoprotein cholesterol, and fluctuating levels of various leukocyte subtypes, procalcitonin, IL6, creatine kinase, and 25-hydroxyvitamin D were also detected. Inflammatory lesions were observed in multiple organs using 18F-FDG PET/CT. By mining single-cell transcriptome data, we identified relatively high expression of NLRP12 in monocytes compared to other human peripheral blood mononuclear cells. NLRP12-positive monocytes exhibited reduced expression of IL18, CCL3, and TNFA compared to NLRP12-negative monocytes. Structural analyses suggested that the A218V mutation, along with A218T and F402L, may reduce the ATP-binding affinity of the NLRP12 protein. These findings may provide new insights into the mechanisms of NLRP12-AID, and suggest the potential ATP-based therapy for further investigation
Beschreibung:Date Completed 19.07.2024
Date Revised 22.07.2024
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2024.110278