دورية أكاديمية
أعرض في EDS

Rare genetic variants provide a mechanistic basis for immune imbalance in IgG4-related disease.

التفاصيل البيبلوغرافية
العنوان: Rare genetic variants provide a mechanistic basis for immune imbalance in IgG4-related disease.
المؤلفون: Ciavatta DJ
المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Aug 15; Vol. 134 (16). Date of Electronic Publication: 2024 Aug 15.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
أسماء مطبوعة: Publication: 1999- : Ann Arbor, MI : American Society for Clinical Investigation
Original Publication: New Haven [etc.] American Society for Clinical Investigation.
مواضيع طبية MeSH: Immunoglobulin G4-Related Disease*/genetics , Immunoglobulin G4-Related Disease*/immunology , Immunoglobulin G4-Related Disease*/pathology , Ubiquitin-Protein Ligases*/genetics , Ubiquitin-Protein Ligases*/immunology , Ikaros Transcription Factor*/genetics , Ikaros Transcription Factor*/immunology, Humans ; Female ; Male ; Immunoglobulin G/immunology ; Immunoglobulin G/genetics ; T-Lymphocytes/immunology ; T-Lymphocytes/pathology ; Autoimmune Diseases/genetics ; Autoimmune Diseases/immunology ; Autoimmune Diseases/pathology ; Genetic Variation
مستخلص: Autoimmune diseases are commonly associated with a polygenic inheritance pattern. In rare instances, causal monogenic variants have been identified. The study by Liu et al. in this issue of the JCI provides an example of monogenic variants occurring in patients with IgG4-related disease (IgG4-RD). The authors investigated a familial cluster of IgG4-RD that consisted of an affected father and two daughters; the mother was unaffected. Genome sequencing of this quad identified a variant in IKZF1 (encoding IKAROS) and another variant in UBR4 (encoding E3 ubiquitin ligase). Both variants were present in the father and both daughters but absent in the unaffected mother. Using multidimensional profiling of immune cells and functional experiments in primary cells, the authors determined a molecular pathway contributing to T cell activation in IgG4-RD. Importantly, the characterization of these variants provides insights into pathogenic mechanisms in IgG4-RD and, potentially, other autoimmune diseases.
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المشرفين على المادة: EC 2.3.2.27 (Ubiquitin-Protein Ligases)
148971-36-2 (Ikaros Transcription Factor)
0 (IKZF1 protein, human)
0 (Immunoglobulin G)
تواريخ الأحداث: Date Created: 20240815 Date Completed: 20240815 Latest Revision: 20240821
رمز التحديث: 20240821
مُعرف محوري في PubMed: PMC11324286
DOI: 10.1172/JCI183396
PMID: 39145453
قاعدة البيانات: MEDLINE
الوصف
تدمد:1558-8238
DOI:10.1172/JCI183396