مورد إلكتروني
Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq.
| العنوان: | Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq. |
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| المؤلفون: | Vazquez, Sara E |
| بيانات النشر: | eScholarship, University of California 2020-05-01 |
| تفاصيل مُضافة: | Vazquez, Sara E Ferré, Elise Mn Scheel, David W Sunshine, Sara Miao, Brenda Mandel-Brehm, Caleigh Quandt, Zoe Chan, Alice Y Cheng, Mickie German, Michael Lionakis, Michail DeRisi, Joseph L Anderson, Mark S |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | The identification of autoantigens remains a critical challenge for understanding and treating autoimmune diseases. Autoimmune polyendocrine syndrome type 1 (APS1), a rare monogenic form of autoimmunity, presents as widespread autoimmunity with T and B cell responses to multiple organs. Importantly, autoantibody discovery in APS1 can illuminate fundamental disease pathogenesis, and many of the antigens found in APS1 extend to more common autoimmune diseases. Here, we performed proteome-wide programmable phage-display (PhIP-Seq) on sera from a cohort of people with APS1 and discovered multiple common antibody targets. These novel APS1 autoantigens exhibit tissue-restricted expression, including expression in enteroendocrine cells, pineal gland, and dental enamel. Using detailed clinical phenotyping, we find novel associations between autoantibodies and organ-restricted autoimmunity, including a link between anti-KHDC3L autoantibodies and premature ovarian insufficiency, and between anti-RFX6 autoantibodies and diarrheal-type intestinal dysfunction. Our study highlights the utility of PhIP-Seq for extensively interrogating antigenic repertoires in human autoimmunity and the importance of antigen discovery for improved understanding of disease mechanisms. |
| مصطلحات الفهرس: | Humans, Polyendocrinopathies, Autoimmune, Acid Phosphatase, Peptide Library, Proteins, Proteome, Autoantibodies, Autoantigens, Proteomics, Autoimmunity, Female, Male, HEK293 Cells, Cell Surface Display Techniques, Biomarkers, Regulatory Factor X Transcription Factors, APECED, PhIP-Seq, autoantigens, autoimmunity, enteroendocrine cells, human, human biology, immunology, inflammation, medicine, ovarian insufficiency, Autoimmune Disease, Genetics, Biotechnology, Clinical Research, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Biochemistry and Cell Biology, publication |
| URL: | |
| الإتاحة: | Open access content. Open access content public |
| ملاحظة: | application/pdf |
| أرقام أخرى: | CDLER oai:escholarship.org:ark:/13030/qt8kv0p4b8 qt8kv0p4b8 https://escholarship.org/uc/item/8kv0p4b8Test https://escholarship.orgTest/ 1367379148 |
| المصدر المساهم: | UC MASS DIGITIZATION From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1367379148 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |