Associated Papers
Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.
Reeve MP et al.
Nature Genetics, 2026
Heritability and Transcriptional Impact of JAK3, STAT5A and STAT6 Variants in a Tyrolean Family.
Lee HK et al.
International Journal of Molecular Sciences, 2026
Monogenic disorders of immunity: Common variants are not so rare.
Béziat V et al.
Cell Genomics, 2026
Impact of rare JAK/STAT germline mutations on vaccination-induced innate immune responses in a Tyrolian population.
Hennighausen L et al.
International Journal of Biological Sciences, 2026
Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.
Hennighausen L et al.
Bmc Genomics, 2025
Genome-wide association study and polygenic risk prediction of hypothyroidism.
Rand SA et al.
Nature Genetics, 2025
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Genetic Susceptibility to Tuberculosis and the Utility of Polygenic Scores in Population Stratification.
Dashian MA et al.
International Journal of Molecular Sciences, 2025
Multi-omic insights from a multi-ancestry genome-wide meta-analysis of ankylosing spondylitis reveal novel pathways of disease susceptibility.
Brown M et al.
Research Square, 2025
Cross-trait GWAS in COVID-19 and systemic sclerosis reveals novel genes implicated in fibrotic and inflammation pathways.
Rosa-Baez C et al.
Rheumatology (oxford, England), 2025
Genetic Mutations and Small Bowel Ulcerating Disease: Role in Diagnosis?
Modi R et al.
Current Gastroenterology Reports, 2025
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.
Bousfiha AA et al.
Journal of Human Immunity, 2025
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.
Poli MC et al.
Journal of Human Immunity, 2025
Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.
Bravo-Perez C et al.
The Journal of Clinical Investigation, 2025
TYK2 :p.Pro1104Ala Variant Protects Against Autoimmunity by Modulating Immune Cell Levels.
Steri M et al.
Immunology, 2025
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N et al.
Nature Communications, 2025
Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.
Hoffmann M et al.
Scientific Reports, 2025
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F et al.
The Journal of Experimental Medicine, 2025
JAK-STAT signaling pathway, immunodeficiency, inflammation, immune dysregulation, and inborn errors of immunity.
Samra S et al.
The Journal of Allergy and Clinical Immunology, 2025
TYK2 rs34536443 (P1104A) Variant Suppresses ICAM1-Mediated Inflammation: Insights From Mendelian Randomization and Functional Analyses.
Dai B et al.
Psoriasis (auckland, N.z.), 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
Deciphering the immunocellular regulatory network in inflammatory bowel disease: from susceptibility genes to cellular effectors and toward precision therapies.
Wu Z et al.
Frontiers in Immunology, 2025
Early human migration determines the risk of being attacked by wolves: ethnic gene diversity on the development of systemic lupus erythematosus.
Bang SY et al.
Journal of Rheumatic Diseases, 2024
Tuberculosis in otherwise healthy adults with inherited TNF deficiency.
Arias AA et al.
Nature, 2024
Untangling the genetics of beta cell dysfunction and death in type 1 diabetes.
Robertson CC et al.
Molecular Metabolism, 2024
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S et al.
Nature Communications, 2024
Complex patterns of multimorbidity associated with severe COVID-19 and long COVID.
Pietzner M et al.
Communications Medicine, 2024
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.
Khavandegar A et al.
The Journal of Allergy and Clinical Immunology, 2024
Tyrosine kinase 2 modulates splenic B cells through type I IFN and TLR7 signaling.
Bodega-Mayor I et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population.
Angulo-Aguado M et al.
Scientific Reports, 2024
Community analysis of large-scale molecular dynamics simulations elucidated dynamics-driven allostery in tyrosine kinase 2.
Lesgidou N et al.
Proteins, 2024
Non-coding autoimmune risk variant defines role for ICOS in T peripheral helper cell development.
Kim T et al.
Nature Communications, 2024
Inborn errors of immunity: an expanding universe of disease and genetic architecture.
Akalu YT et al.
Nature Reviews. Genetics, 2024
New primary immunodeficiencies 2023 update.
Yu JE
Current Opinion in Pediatrics, 2024
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond.
Unknown Author
Trends in Immunology, 2024
Associations of genetic variants within TYK2 with pulmonary tuberculosis among Chinese population.
Zhang M et al.
Molecular Genetics & Genomic Medicine, 2024
The role of admixture in the rare variant contribution to inflammatory bowel disease.
Astore C et al.
Genome Medicine, 2023
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.
Bohlen J et al.
Cell, 2023
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.
Roussel L et al.
Journal of Clinical Immunology, 2023
Allosteric TYK2 inhibition: redefining autoimmune disease therapy beyond JAK1-3 inhibitors.
Jensen LT et al.
Ebiomedicine, 2023
The Relationship between COVID-19 Severity in Children and Immunoregulatory Gene Polymorphism.
Kozak K et al.
Viruses, 2023
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N et al.
Medrxiv : the Preprint Server for Health Sciences, 2023