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Journal of Clinical Immunology|August 28, 2024
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System InflammationClément Triaille, Neha Mohan Rao, Gillian I Rice, et al.Journal of Human Immunity|February 12, 2026
Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitisYemsratch Akalu, Justin Taft, Thomas Berger, et al.Seminars in Arthritis and Rheumatism|November 2, 2025
Analytical performance of commercial myositis-specific autoantibody tests evaluated against immunoprecipitation assays as a reference standard: A systematic review and meta-analysisTakahisa Gono, Albert Gil-Vila, Albert Selva-O'Callaghan, et al.Cell|August 7, 2021
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell deathJustin Taft, Michael Markson, Diana Legarda, et al.The Journal of Allergy and Clinical Immunology|January 17, 2020
Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)Pui Y Lee, Erinn S Kellner, Yuelong Huang, et al.Arthritis & Rheumatology (Hoboken, N.J.)|September 6, 2020
Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From IndiaAman Sharma, Gsrsnk Naidu, Vikas Sharma, et al.The New England Journal of Medicine|May 31, 2023
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory SyndromeHratch Baghdassarian, Sarah A Blackstone, Owen S Clay, et al.Rheumatology (Oxford, England)|August 24, 2020
Development and initial validation of a composite disease activity score for systemic juvenile idiopathic arthritisJessica Tibaldi, Angela Pistorio, Elena Aldera, et al.Nature Immunology|April 12, 2024
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiencyHirotsugu Oda, Kalpana Manthiram, Pallavi Pimpale Chavan, et al.Pageof 6