Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome

Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome Publisher

Vahedi M¹ ; Parvaneh N⁴ ; Vahedi S² ; Shahrooei M³ ; Ziaee V⁵

Show Affiliations

1. Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran
2. Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Microbiology and Immunology, Laboratory of Clinical Bacteriology and Mycology, KU Leuven, Leuven, Belgium
4. Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
5. Pediatric Rheumatology Society of Iran, Tehran, Iran

Source: Case Reports in Immunology Published:2021

Abstract

Background. NLRP3 gene is located in chromosome 1 and encodes a pyrin-like protein. Mutations in this gene are associated with an autoinflammatory disease, called cryopyrin-associated periodic syndrome (CAPS). Case Presentation. We report a 1-year-old boy who had recurrent urticarial rash since birth and joint pain and swelling. He had a missense mutation c.G1060 T (p.A354S) in exon 5 of the NLRP3 gene which was detected by whole exome sequencing. Conclusion. A novel variant was found in the NLRP3 gene which has not been reported by now. © 2021 Mahdieh Vahedi et al.

Style	Citing Format
MLA	Vahedi M, et al.. "Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome." Case Reports in Immunology, vol. 2021, no. , 2021, pp. -.
APA	Vahedi M, Parvaneh N, Vahedi S, Shahrooei M, Ziaee V (2021). Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome. Case Reports in Immunology, 2021(), -.
Chicago	Vahedi M, Parvaneh N, Vahedi S, Shahrooei M, Ziaee V. "Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome." Case Reports in Immunology 2021, no. (2021): -.
Harvard	Vahedi M et al. (2021) 'Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome', Case Reports in Immunology, 2021(), pp. -.
Vancouver	Vahedi M, Parvaneh N, Vahedi S, Shahrooei M, Ziaee V. Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome. Case Reports in Immunology. 2021;2021():-.
BibTex	@article{ author = {Vahedi M and Parvaneh N and Vahedi S and Shahrooei M and Ziaee V}, title = {Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome}, journal = {Case Reports in Immunology}, volume = {2021}, number = {}, pages = {-}, year = {2021} }
RIS	TY - JOUR AU - Vahedi M AU - Parvaneh N AU - Vahedi S AU - Shahrooei M AU - Ziaee V TI - Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome JO - Case Reports in Immunology VL - 2021 IS - SP - EP - PY - 2021 ER -

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