|
|
|
|
| LEADER |
01000caa a22002652 4500 |
| 001 |
NLM373668597 |
| 003 |
DE-627 |
| 005 |
20240722233103.0 |
| 007 |
cr uuu---uuuuu |
| 008 |
240616s2024 xx |||||o 00| ||eng c |
| 024 |
7 |
|
|a 10.1016/j.clim.2024.110278
|2 doi
|
| 028 |
5 |
2 |
|a pubmed24n1478.xml
|
| 035 |
|
|
|a (DE-627)NLM373668597
|
| 035 |
|
|
|a (NLM)38878806
|
| 035 |
|
|
|a (PII)S1521-6616(24)00387-5
|
| 040 |
|
|
|a DE-627
|b ger
|c DE-627
|e rakwb
|
| 041 |
|
|
|a eng
|
| 100 |
1 |
|
|a Li, Zhonghua
|e verfasserin
|4 aut
|
| 245 |
1 |
0 |
|a NLRP12-associated autoinflammatory disease
|b A novel causal mutation and bioinformatics analyses
|
| 264 |
|
1 |
|c 2024
|
| 336 |
|
|
|a Text
|b txt
|2 rdacontent
|
| 337 |
|
|
|a ƒaComputermedien
|b c
|2 rdamedia
|
| 338 |
|
|
|a ƒa Online-Ressource
|b cr
|2 rdacarrier
|
| 500 |
|
|
|a Date Completed 19.07.2024
|
| 500 |
|
|
|a Date Revised 22.07.2024
|
| 500 |
|
|
|a published: Print-Electronic
|
| 500 |
|
|
|a Citation Status MEDLINE
|
| 520 |
|
|
|a Copyright © 2024 Elsevier Inc. All rights reserved.
|
| 520 |
|
|
|a 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
|
| 650 |
|
4 |
|a Journal Article
|
| 650 |
|
4 |
|a Case Reports
|
| 650 |
|
4 |
|a Gene mutation
|
| 650 |
|
4 |
|a Molecular docking
|
| 650 |
|
4 |
|a NLRP12
|
| 650 |
|
4 |
|a NLRP12-AID
|
| 650 |
|
4 |
|a Single-cell sequencing
|
| 650 |
|
7 |
|a NLRP12 protein, human
|2 NLM
|
| 650 |
|
7 |
|a Intracellular Signaling Peptides and Proteins
|2 NLM
|
| 700 |
1 |
|
|a Zhi, Qi
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Li, Jiahuang
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Zhu, Bo
|e verfasserin
|4 aut
|
| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 265(2024) vom: 01. Juli, Seite 110278
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
|
| 773 |
1 |
8 |
|g volume:265
|g year:2024
|g day:01
|g month:07
|g pages:110278
|
| 856 |
4 |
0 |
|u http://dx.doi.org/10.1016/j.clim.2024.110278
|3 Volltext
|
| 912 |
|
|
|a GBV_USEFLAG_A
|
| 912 |
|
|
|a SYSFLAG_A
|
| 912 |
|
|
|a GBV_NLM
|
| 912 |
|
|
|a GBV_ILN_11
|
| 912 |
|
|
|a GBV_ILN_24
|
| 912 |
|
|
|a GBV_ILN_350
|
| 951 |
|
|
|a AR
|
| 952 |
|
|
|d 265
|j 2024
|b 01
|c 07
|h 110278
|