This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
February 2026 in “Immunity Inflammation and Disease” This study evaluated 386 patients with inborn errors of immunity and found that over half exhibited cutaneous, ocular, or hair manifestations, with bacterial skin infections and eczema being particularly prevalent. These findings may aid early diagnosis, especially in pediatric cases.
July 2024 in “Journal of Investigative Dermatology” This study found that in mice with alopecia areata, CD8+ T cells showed clonal expansion and specific regulatory networks, which might help identify new therapeutic targets for patients not responding to JAK inhibitors.
2 citations
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April 2025 in “Journal of Investigative Dermatology” T cells affect skin cell genes in inflammatory diseases, and therapy can normalize these changes.
November 2023 in “Journal of Investigative Dermatology” This study used advanced single-cell RNA and chromatin sequencing to investigate differences in peripheral blood cells between mild and severe alopecia areata patients, uncovering shared transcription factor motifs that may explain disease severity and open avenues for future research on therapeutic targets.
March 2026 in “Journal of Investigative Dermatology”
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Imaging Mass Cytometry effectively visualizes multiple biomarkers in alopecia areata, enhancing analysis of immune cell and tissue interactions in hair pathology.
July 2026 in “Journal of Investigative Dermatology” Alopecia totalis/universalis involves more intense immune activity and inflammation than patchy alopecia areata.
November 2025 in “The Journal of Immunology” This study identified specific genes upregulated in skin γδ T cells involved in alopecia areata, with findings suggesting these cells contribute to disease pathogenesis through inflammatory and Th1 response mechanisms in mouse and possibly human skin.
114 citations
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September 1985 in “Journal of Investigative Dermatology” 22 citations
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January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
74 citations
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May 2016 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” This review identifies shared interferon gamma-driven immune pathways in vitiligo and alopecia areata, revealing potential targets for new treatments, but reports no clinical results.
47 citations
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July 2023 in “Nature Genetics” 717 citations
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June 2010 in “Nature” This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.
April 2020 in “International Journal of Dermatology” This study found that peribulbar lymphocytic infiltration can effectively differentiate between alopecia areata and androgenetic alopecia using T-cell infiltration patterns in skin tissue.
February 2009 in “Journal of The American Academy of Dermatology” Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.
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.
This study found that integrating machine learning enhances the predictive accuracy of forensic DNA phenotyping from low template DNA, achieving high accuracy for traits like eye color, although challenges remain for admixed populations and complex traits.
January 2024 in “Wiadomości Lekarskie” This study outlines new strategies for overcoming "cold" tumors, which are typically unresponsive to cancer immunotherapy, with approaches like dendritic cell-based treatments and local immune microenvironment modification, bolstered by both preclinical and clinical trial data.
71 citations
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October 2013 in “Experimental Dermatology” This review discusses the similar immune pathways and genetic risk factors of vitiligo and alopecia areata but reports no new clinical findings, emphasizing the potential for shared treatment research.
21 citations
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December 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that T-cell responses in extensive alopecia areata scalp may be aberrantly regulated, with reduced cytokine production but activated phenotype, providing insight into the disease's immune mechanisms.
5 citations
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August 1983 in “PubMed” This study found that isozyme profiles in polyoma virus-induced tumors were consistent and distinctive for each tumor type, except for salivary and mammary tumors which shared a profile.
23 citations
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March 1958 in “JNCI Journal of the National Cancer Institute” This study observed that male-to-female skin grafts were consistently rejected in mice due to sex-linked histocompatibility antigens, suggesting potential applications for distinguishing between X- and Y-chromosome-carrying sperm.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
January 2016 in “mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich)” This thesis presents a new scientific approach using specific models to gain insights into psoriasis and eczema, highlighting a molecular classifier that improves diagnostic accuracy and predicts therapeutic response for these conditions.
April 2023 in “Journal of Investigative Dermatology” In this study, researchers developed a mouse model of scarring alopecia and observed significant reductions in CD200R expression in affected skin, potentially linking this signaling pathway to immune attacks on hair follicles and suggesting new treatment targets for scarring hair loss.
July 2025 in “Genome biology” This study highlighted the effectiveness of HT-scCAT-seq as a tool for understanding gene regulation in single cells, offering insights into embryonic skin development and proposing a framework for exploring regulatory mechanisms in various biological and disease contexts.
This study identified a high proportion of dual TCR Treg cells in both lymphoid and non-lymphoid tissues of mice, revealing their tissue specificity, TCR repertoire characteristics, and functional phenotypes.
4 citations
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May 2025 in “The Journal of Immunology” This review explores how molecular profiling in atopic dermatitis has led to new therapeutic developments, detailing approved and potential treatments, and discusses similar advances in alopecia areata; it reports no new results.
13 citations
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June 2012 in “European journal of medical genetics” In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.