ArticleFrontiers in immunology2020
Interstitial Lung Disease and Psoriasis in a Child With Aicardi-Goutières Syndrome.
Article in Frontiers in immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Effectiveness and Safety of JAK Inhibitors in Autoinflammatory Diseases: A Systematic Review.Frontiers in medicine · 2022Pooled it
- Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1.Orphanet journal of rare diseases · 2025Article
- Primary immunodeficiency as a cause of immune-mediated kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2024Review
- Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.Pediatric investigation · 2024Article
- Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1.Journal of clinical immunology · 2023Article
- JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.Journal of clinical immunology · 2023Article
- Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutières syndrome.World journal of pediatrics : WJP · 2023Review
- Interstitial Lung Disease in Immunocompromised Children.Diagnostics (Basel, Switzerland) · 2022Article
- Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.World journal of pediatrics : WJP · 2022Article
- [Research advances in the clinical genetics of leukodystrophy in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Review
- Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation.Arthritis & rheumatology (Hoboken, N.J.) · 2022Article
- Case report:Frontiers in immunology · 2022Article
- Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.International journal of molecular sciences · 2021Review
- STING-Mediated Lung Inflammation and Beyond.Journal of clinical immunology · 2021Review
- Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect.Pediatric rheumatology online journal · 2021Article
- Type I Interferonopathies in Children: An Overview.Frontiers in pediatrics · 2021Review
- Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity.Frontiers in immunology · 2021Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aicardi-Goutières syndrome (AGS) is characterized by progressive neurologic decline, cerebral calcification, and variable manifestations of autoimmunity. Seven subtypes of AGS have been defined and aberrant activation of the type I interferon system is a common theme among these conditions. We describe a 13-year-old boy who presented with an unusual constellation of psoriasis, interstitial lung disease (ILD), and pulmonary hypertension in addition to cerebral calcifications and glomerulonephritis. He was found to have late-onset AGS due to a gain-of-function mutation in
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