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NLM304709719 |
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cr uuu---uuuuu |
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231225s2020 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2019.108328
|2 doi
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|a pubmed24n1015.xml
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|a (DE-627)NLM304709719
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|a (NLM)31870725
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|a (PII)S1521-6616(19)30532-7
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Chear, Chai Teng
|e verfasserin
|4 aut
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| 245 |
1 |
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|a A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation
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|c 2020
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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| 500 |
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|a Date Completed 04.08.2020
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|a Date Revised 10.02.2021
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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| 520 |
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|a Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved.
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|a Autoinflammatory disorders are characterized by dysregulated innate immune response, resulting in recurrent uncontrolled systemic inflammation and fever. Gain-of-function mutations in NLRC4 have been described to cause a range of autoinflammatory disorders. We report a twelve-year-old Malay girl with recurrent fever, skin erythema, and inflammatory arthritis. Whole exome sequencing and subsequent bidirectional Sanger sequencing identified a heterozygous missense mutation in NLRC4 (NM_001199138: c.1970A > T). This variant was predicted to be damaging in silico, was absent in public and local databases and occurred in a highly conserved residue in the leucine-rich repeat (LRR) domain. Cytokine analysis showed extremely high serum IL-18 and IL-18/CXCL9 ratio, consistent with other NLRC4-MAS patients. In summary, we identified the first patient with a novel de novo heterozygous NLRC4 gene mutation contributing to autoinflammatory disease in Malaysia. Our findings reinforce the likely pathogenicity of specific LRR domain mutations in NLRC4 and expand the clinical spectrum of NLRC4 mutations
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|a Case Reports
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|a Journal Article
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|a Research Support, Non-U.S. Gov't
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| 650 |
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|a Autoinflammatory disease
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| 650 |
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|a Inflammasome
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| 650 |
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|a NLRC4
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| 650 |
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|a Whole exome sequencing
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| 650 |
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|a CARD Signaling Adaptor Proteins
|2 NLM
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| 650 |
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|a CXCL9 protein, human
|2 NLM
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| 650 |
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|a Calcium-Binding Proteins
|2 NLM
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| 650 |
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|a Chemokine CXCL9
|2 NLM
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| 650 |
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|a IL18 protein, human
|2 NLM
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| 650 |
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|a Interleukin-18
|2 NLM
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| 650 |
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|a NLRC4 protein, human
|2 NLM
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| 700 |
1 |
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|a Nallusamy, Revathy
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Canna, Scott W
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Chan, Kwai Cheng
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Baharin, Mohd Farid
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Hishamshah, Munirah
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ghani, Hamidah
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ripen, Adiratna Mat
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Mohamad, Saharuddin Bin
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 211(2020) vom: 01. Feb., Seite 108328
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
8 |
|g volume:211
|g year:2020
|g day:01
|g month:02
|g pages:108328
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| 856 |
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|u http://dx.doi.org/10.1016/j.clim.2019.108328
|3 Volltext
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