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Yao syndrome: Cyclical folliculitis, fevers, and abdominal pain.

作者信息

Esse Ilhan, Kincaid Colin, Horton Luke, Arnold Justin D, Mesinkovska Natasha A

机构信息

Department of Dermatology, University of California, Irvine, California.

出版信息

JAAD Case Rep. 2023 Mar 12;35:71-73. doi: 10.1016/j.jdcr.2023.01.039. eCollection 2023 May.

DOI:10.1016/j.jdcr.2023.01.039

PMID:37124443

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10139879/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3254/10139879/f8121b09db95/gr1.jpg

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Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations.

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Yao syndrome: Cyclical folliculitis, fevers, and abdominal pain.

作者信息

Esse Ilhan, Kincaid Colin, Horton Luke, Arnold Justin D, Mesinkovska Natasha A

机构信息

Department of Dermatology, University of California, Irvine, California.

出版信息

JAAD Case Rep. 2023 Mar 12;35:71-73. doi: 10.1016/j.jdcr.2023.01.039. eCollection 2023 May.

DOI:10.1016/j.jdcr.2023.01.039

PMID:37124443

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10139879/

Abstract

摘要

相似文献

Yao syndrome: Cyclical folliculitis, fevers, and abdominal pain.

JAAD Case Rep. 2023 Mar 12;35:71-73. doi: 10.1016/j.jdcr.2023.01.039. eCollection 2023 May.

Blau syndrome with a rare mutation in exon 9 of gene.

Autoimmunity. 2019 Nov-Dec;52(7-8):256-263. doi: 10.1080/08916934.2019.1671375. Epub 2019 Sep 26.

A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease.

Am J Med. 2017 Mar;130(3):365.e13-365.e18. doi: 10.1016/j.amjmed.2016.09.028. Epub 2016 Oct 28.

Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis.

Ophthalmology. 2022 Jul;129(7):821-828. doi: 10.1016/j.ophtha.2022.03.014. Epub 2022 Mar 18.

Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.

Arthritis Rheum. 2009 Jan;60(1):242-50. doi: 10.1002/art.24134.

Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function.

Front Immunol. 2022 Sep 15;13:988862. doi: 10.3389/fimmu.2022.988862. eCollection 2022.

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.

Arthritis Rheumatol. 2016 Apr;68(4):1039-44. doi: 10.1002/art.39519.

Sustained Surface ICAM-1 Expression and Transient PDGF-B Production by Phorbol Myristate Acetate-Activated THP-1 Cells Harboring Blau Syndrome-Associated Mutations.

Children (Basel). 2021 Apr 25;8(5):335. doi: 10.3390/children8050335.

Pluripotent stem cell models of Blau syndrome reveal an IFN-γ-dependent inflammatory response in macrophages.

J Allergy Clin Immunol. 2018 Jan;141(1):339-349.e11. doi: 10.1016/j.jaci.2017.04.013. Epub 2017 Jun 3.

Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis.

J Rheumatol. 2005 Feb;32(2):373-5.

引用本文的文献

The expanding clinical spectrum of autoinflammatory diseases with variants: a case series and literature review.

Front Immunol. 2024 Jan 29;15:1342668. doi: 10.3389/fimmu.2024.1342668. eCollection 2024.

Multifaceted roles and regulation of nucleotide-binding oligomerization domain containing proteins.

Front Immunol. 2023 Oct 5;14:1242659. doi: 10.3389/fimmu.2023.1242659. eCollection 2023.

本文引用的文献

Genetically transitional disease: a new concept in genomic medicine.

Trends Genet. 2023 Feb;39(2):98-108. doi: 10.1016/j.tig.2022.11.002. Epub 2022 Dec 21.

A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease.

Am J Med. 2017 Mar;130(3):365.e13-365.e18. doi: 10.1016/j.amjmed.2016.09.028. Epub 2016 Oct 28.

J Allergy Clin Immunol. 2016 Jan;137(1):35-45. doi: 10.1016/j.jaci.2015.08.034. Epub 2015 Oct 21.

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Rheumatology (Oxford). 2015 Oct;54(10):1904-12. doi: 10.1093/rheumatology/kev207. Epub 2015 Jun 11.

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Semin Arthritis Rheum. 2013 Aug;43(1):125-30. doi: 10.1016/j.semarthrit.2012.12.005. Epub 2013 Jan 24.

Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations.

J Am Acad Dermatol. 2013 Apr;68(4):624-631. doi: 10.1016/j.jaad.2012.09.025. Epub 2012 Oct 24.

Signalling pathways and molecular interactions of NOD1 and NOD2.

Nat Rev Immunol. 2006 Jan;6(1):9-20. doi: 10.1038/nri1747.