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Journal of Clinical Immunology|March 23, 2022
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ InvolvementLeslie Naesens, Josephine Nemegeer, Filip Roelens, et al.Neuropediatrics|January 11, 2014
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plusJohn H Livingston, Josephine Mayer, Emma Jenkinson, et al.Clinical Genetics|February 8, 2022
Systemic inflammatory syndrome in children with FARSA deficiencyFabienne Charbit-Henrion, Roman Goguyer-Deschaumes, Keren Borensztajn, et al.Cytokine|May 4, 2021
Differential levels of IFNα subtypes in autoimmunity and viral infectionVincent Bondet, Mathieu P Rodero, Céline Posseme, et al.Journal of Clinical Immunology|February 7, 2024
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory DiseaseClémence David, Mihaly Badonyi, Robin Kechiche, et al.Journal of Clinical Immunology|June 7, 2022
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signalingMaud Tusseau, Ema Lovšin, Charlotte Samaille, et al.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.The Journal of Experimental Medicine|February 19, 2021
LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophagesOmmar Omarjee, Anne-Laure Mathieu, Gaëlle Quiniou, et al.The Journal of Allergy and Clinical Immunology|January 15, 2017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signalingIsabelle Melki, Yoann Rose, Carolina Uggenti, et al.Journal of Clinical Immunology|March 9, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.Pageof 10