Associated Papers
Decreased IL-17-producing TH cells as a diagnostic marker for STAT signaling-related primary immunodeficiencies.
Molnár E et al.
The Journal of Allergy and Clinical Immunology. Global, 2026
Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study.
Anh PNL et al.
Orphanet Journal of Rare Diseases, 2026
Severe Bleeding From Portal Hypertension in a Young Patient With Common Variable Immunodeficiency-Associated Nodular Regenerative Hyperplasia.
Kamalumpundi V et al.
Acg Case Reports Journal, 2025
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.
Buddingh EP et al.
Journal of Human Immunity, 2025
An activating Stat1 mutant disrupts normal STAT4 innate lymphocyte programs during viral infection.
Philips RL et al.
Science Immunology, 2025
Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.
Li S et al.
Journal of Advanced Research, 2025
Monoallelic expression in human immune cells: linking genotype to phenotype.
Hammarström L et al.
Trends in Immunology, 2025
Prolonged STAT1 signaling in neurons causes hyperactive behavior.
Clark DN et al.
Brain, Behavior, and Immunity, 2025
Monoallelic expression can govern penetrance of inborn errors of immunity.
Stewart O et al.
Nature, 2025
Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study.
Fan H et al.
Frontiers in Immunology, 2025
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.
Rozevska M et al.
Frontiers in Immunology, 2025
Defects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations.
Refaat M et al.
Pathogens & Immunity, 2025
The T385M STAT1 gain-of-function mutation confers the most severe disease outcomes.
Torrance R et al.
Frontiers in Immunology, 2025
A pediatric patient with immunodeficiency-related STAT1 gene mutation complicating lymph node tuberculosis.
Xu M et al.
Asian Journal of Surgery, 2024
Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report.
Alakeel A et al.
Dermatology Reports, 2024
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
Jeanpierre M et al.
The Journal of Experimental Medicine, 2024
Clinical features and lymphocyte immunophenotyping analysis in primary immunodeficiency patients with non-transplant lymphoproliferative disorders.
Lee WI et al.
Clinical Immunology (orlando, Fla.), 2024
Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.
Chen R et al.
Journal of Clinical Immunology, 2024
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib.
Dotta L et al.
Journal of Clinical Immunology, 2024
Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience.
Aygun A et al.
Immunologic Research, 2024
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.
Martin E et al.
Nature, 2024
Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.
Asano T et al.
Immunological Reviews, 2024
Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs).
Peng XP et al.
Clinical Immunology (orlando, Fla.), 2023
Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease.
Lee WI et al.
Journal of Clinical Immunology, 2023
Heterozygous gain-of-function mutations in human STAT1: A case of hemophagocytic lymphohistiocytosis due to chronic mucocutaneous candidiasis in a 17-month-old male.
Ruan P et al.
Pediatric Blood & Cancer, 2023
Practical challenges for functional validation of STAT1 gain of function genetic variants.
Albuquerque AS et al.
Clinical and Experimental Immunology, 2023
Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.
Wang X et al.
Mycopathologia, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
Philippot Q et al.
Science Immunology, 2023
The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice.
Scott O et al.
Frontiers in Immunology, 2023
Cerebral aneurysm in three pediatric patients with STAT1 gain-of-function mutations.
Bierman-Chow S et al.
Journal of Neurology, 2022
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain-of-function mutation: A case report and review of the literature.
Alidrisi D et al.
Clinical Case Reports, 2022
Structural and mutational analysis of member-specific STAT functions.
Erdogan F et al.
Biochimica Et Biophysica Acta. General Subjects, 2022
Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.
Lashkari HP et al.
Indian Journal of Pediatrics, 2022
DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.
Scott O et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.
Ripen AM et al.
Clinical and Experimental Immunology, 2021
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Frede N et al.
Journal of Clinical Immunology, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
[Two Chinese cases with STAT1 gene gain-of-function variation].
Chen LQ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses.
Scott O et al.
Npj Genomic Medicine, 2021
Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.
Kayaoglu B et al.
Journal of Clinical Immunology, 2021
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W et al.
Frontiers in Immunology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Hemophagocytic lymphohistiocytosis caused by STAT1 gain-of-function mutation is not driven by interferon-γ: A case report.
Liu N et al.
World Journal of Clinical Cases, 2020
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada S et al.
Journal of Clinical Immunology, 2020
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
Gruber CN et al.
Immunity, 2020