دورية أكاديمية
أعرض في EDS

A TNIP1-driven systemic autoimmune disorder with elevated IgG4.

التفاصيل البيبلوغرافية
العنوان: A TNIP1-driven systemic autoimmune disorder with elevated IgG4.
المؤلفون: Medhavy A; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Athanasopoulos V; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Bassett K; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., He Y; China Australia Center for Personalized Immunology, Shanghai Renji Hospital, Shanghai Jiaotong University, Shanghai, China., Stanley M; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Enosi Tuipulotu D; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Cappello J; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Brown GJ; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Gonzalez-Figueroa P; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Turnbull C; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Shanmuganandam S; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Tummala P; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Hart G; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Lea-Henry T; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Wang H; Francis Crick Institute, London, UK., Nambadan S; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Shen Q; Francis Crick Institute, London, UK., Roco JA; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Burgio G; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Wu P; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Cho E; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Andrews TD; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Field MA; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.; Center for Tropical Bioinformatics and Molecular Biology, Australian Institute of Tropical Health and Medicine, James Cook University, Cairns, Queensland, Australia., Wu X; China Australia Center for Personalized Immunology, Shanghai Renji Hospital, Shanghai Jiaotong University, Shanghai, China., Ding H; Department of Rheumatology, Renji Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China., Guo Q; Department of Rheumatology, Renji Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China., Shen N; China Australia Center for Personalized Immunology, Shanghai Renji Hospital, Shanghai Jiaotong University, Shanghai, China.; Department of Rheumatology, Renji Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China., Man SM; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Jiang SH; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Cook MC; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.; Department of Medicine, University of Cambridge, Cambridge, UK., Vinuesa CG; Division of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia. carola.vinuesa@crick.ac.uk.; China Australia Center for Personalized Immunology, Shanghai Renji Hospital, Shanghai Jiaotong University, Shanghai, China. carola.vinuesa@crick.ac.uk.; Francis Crick Institute, London, UK. carola.vinuesa@crick.ac.uk.
المصدر: Nature immunology [Nat Immunol] 2024 Sep; Vol. 25 (9), pp. 1678-1691. Date of Electronic Publication: 2024 Jul 26.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Nature America Inc Country of Publication: United States NLM ID: 100941354 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-2916 (Electronic) Linking ISSN: 15292908 NLM ISO Abbreviation: Nat Immunol Subsets: MEDLINE
أسماء مطبوعة: Original Publication: New York, NY : Nature America Inc. c2000-
مواضيع طبية MeSH: Immunoglobulin G*/immunology , Immunoglobulin G*/metabolism , Toll-Like Receptor 7*/metabolism , Toll-Like Receptor 7*/genetics , Toll-Like Receptor 7*/immunology , Myeloid Differentiation Factor 88*/metabolism , Myeloid Differentiation Factor 88*/genetics , Autoimmune Diseases*/immunology , Autoimmune Diseases*/genetics , DNA-Binding Proteins*/metabolism , DNA-Binding Proteins*/genetics, Animals ; Humans ; Mice ; Female ; Male ; Signal Transduction ; Mitochondria/metabolism ; Exome Sequencing ; Antibodies, Antinuclear/immunology ; B-Lymphocytes/immunology ; Mice, Knockout ; Mice, Inbred C57BL ; Germinal Center/immunology ; Pedigree ; Salivary Glands/immunology ; Salivary Glands/metabolism ; Salivary Glands/pathology ; Membrane Glycoproteins
مستخلص: Whole-exome sequencing of two unrelated kindreds with systemic autoimmune disease featuring antinuclear antibodies with IgG4 elevation uncovered an identical ultrarare heterozygous TNIP1 Q333P variant segregating with disease. Mice with the orthologous Q346P variant developed antinuclear autoantibodies, salivary gland inflammation, elevated IgG2c, spontaneous germinal centers and expansion of age-associated B cells, plasma cells and follicular and extrafollicular helper T cells. B cell phenotypes were cell-autonomous and rescued by ablation of Toll-like receptor 7 (TLR7) or MyD88. The variant increased interferon-β without altering nuclear factor kappa-light-chain-enhancer of activated B cells signaling, and impaired MyD88 and IRAK1 recruitment to autophagosomes. Additionally, the Q333P variant impaired TNIP1 localization to damaged mitochondria and mitophagosome formation. Damaged mitochondria were abundant in the salivary epithelial cells of Tnip1 Q346P mice. These findings suggest that TNIP1-mediated autoimmunity may be a consequence of increased TLR7 signaling due to impaired recruitment of downstream signaling molecules and damaged mitochondria to autophagosomes and may thus respond to TLR7-targeted therapeutics.
(© 2024. The Author(s).)
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معلومات مُعتمدة: United Kingdom WT_ Wellcome Trust; CC2228 United Kingdom ARC_ Arthritis Research UK
المشرفين على المادة: 0 (Immunoglobulin G)
0 (Toll-Like Receptor 7)
0 (Myeloid Differentiation Factor 88)
0 (DNA-Binding Proteins)
0 (TNIP1 protein, human)
0 (Antibodies, Antinuclear)
0 (Tlr7 protein, mouse)
0 (Myd88 protein, mouse)
0 (Membrane Glycoproteins)
تواريخ الأحداث: Date Created: 20240726 Date Completed: 20240830 Latest Revision: 20240901
رمز التحديث: 20240901
مُعرف محوري في PubMed: PMC11362012
DOI: 10.1038/s41590-024-01902-0
PMID: 39060650
قاعدة البيانات: MEDLINE
الوصف
تدمد:1529-2916
DOI:10.1038/s41590-024-01902-0