January 2024 in “Pediatric rheumatology online journal” In this case report, the authors describe a child and his mother with a heterozygous STING variant linked to SAVI, who exhibited atypical disease courses and varying organ involvement, underlining the diverse clinical manifestations of SAVI.
32 citations
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December 2018 in “Cytokine” This review discusses the involvement of type I interferons in skin autoimmune and inflammatory diseases but reports no new clinical results.
4 citations
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February 2022 in “JEADV Clinical Practice” This review discusses the diverse range of skin manifestations in children with COVID-19 and highlights the complexity of clinical assessment due to varied presentations; it reports no new clinical findings.
70 citations
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October 2020 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This review discusses the JAK-STAT pathway and the use of FDA-approved JAK inhibitors for autoimmune and inflammatory diseases but reports no new research findings.
5 citations
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December 2022 in “Genes” This review discusses the host genetic factors influencing COVID-19 susceptibility and pathogenesis, highlighting genetic variations that affect viral entry and immune responses, but reports no new experimental results.
223 citations
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September 2018 in “Rheumatology” This review examines clinical data on the efficacy and safety of JAK inhibitors used for immune-mediated conditions beyond rheumatoid arthritis, highlighting their potential therapeutic roles in various inflammatory diseases.
September 2022 in “Acta Medica” This study reported that new-onset skin conditions such as acne vulgaris emerged in children during the Covid-19 pandemic, potentially linked to mask use and the psychosocial stress of the pandemic.
47 citations
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December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
14 citations
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March 2022 in “Journal of inflammation research” This review discusses the application and potential of baricitinib, a JAK1/2 inhibitor, for treating dermatological diseases like alopecia areata and reports no new clinical results.
42 citations
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April 2021 in “Journal of clinical pharmacology” This review discusses baricitinib's applications for various inflammatory disorders and highlights its promising efficacy alongside potential adverse effects, advocating for further research before it becomes a standard treatment.
1 citations
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January 2024 in “American journal of clinical and experimental immunology.” This study reports that cutaneous manifestations such as herpes zoster, purpura, and livedo reticularis in COVID-19 patients can potentially indicate disease severity, aiding in the prediction of the illness's progression and guiding dermatological management during the pandemic.
1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.
December 2023 in “Research Square (Research Square)” This study observed that individuals with Down syndrome had a higher incidence of autoimmune skin conditions and a lower incidence of certain viral infections, indicating unique immune system dysregulation.
This study suggests that the EULAR/ACR classification criteria for SLE may help predict organ damage, particularly in renal, cardiovascular, dermatological, and gonadal domains.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
82 citations
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June 2020 in “Inflammation Research” This review discusses the complex pathophysiological and clinical aspects of COVID-19, including dermatological findings and their association with SARS-CoV-2 infection but reports no new clinical results.
6 citations
,
April 2025 in “Communications Biology” In this study, researchers used a murine model of irritant contact dermatitis to reveal that hair follicle regions serve as key sites for neutrophil transepidermal migration, which requires MMP-9 expression stimulated by dermal monocytes.
4 citations
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April 2023 in “Cutis” This review examines various skin conditions associated with the COVID-19 pandemic, covering virus-related dermatoses and cutaneous side effects from treatments and vaccines, but reports no clinical results.
November 2024 in “SKIN The Journal of Cutaneous Medicine” This study found extensive real-world and clinical trial exposure to baricitinib across various disease states, ages, and racial populations, contributing data to its overall profile.
This study reports an increase in the frequency and variety of skin conditions associated with COVID-19, noting that milder cases often present with pernio-like lesions, while severe cases may involve livedo racemosa, retiform purpura, and acral ischemia.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
March 2025 in “European Journal of Medical Genetics” This case report suggests that tofacitinib may effectively manage symptoms of AGS7 in a patient with an IFIH1 mutation, though further studies are needed to confirm its long-term safety and efficacy.
2 citations
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January 2023 in “Journal of Clinical Medicine” This review discusses the links between different types of alopecia and thyroid disorders, highlighting some shared autoimmune factors, but reports no new clinical results.
November 2024 in “Medicina” This case report details a unique instance of pityriasis rubra pilaris affecting only the scalp, highlighting novel trichoscopic features and emphasizing the importance of recognizing this rare presentation for improved diagnosis and treatment.
April 2024 in “Journal of clinical medicine” This review discusses the diverse cutaneous manifestations of lupus erythematosus and emphasizes the importance of differential diagnosis for effective management, but reports no new clinical findings.
35 citations
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February 2022 in “Frontiers in Pediatrics” This study found that tofacitinib may be effective in treating various pediatric rheumatic diseases, particularly juvenile idiopathic arthritis, although some patients did not respond, and side effects were observed.
September 2025 in “Acta Dermato Venereologica” Baricitinib can help improve hair loss and skin color issues in people with Down syndrome.
33 citations
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April 2020 in “Journal of Clinical Investigation” This study found that hair follicle stem cells from hidradenitis suppurativa patients showed alterations in cell cycle regulation and DNA replication, potentially linking genetic predisposition to the skin inflammation characteristic of the disease.
January 2026 in “Medicina” This review found that oral JAK inhibitors, used off-label in various inflammatory skin disorders, often resulted in rapid and sustained clinical improvements with acceptable safety over several months, although the evidence is drawn from case-based reports.