References

Clinical Relevance of Gain‐ and Loss‐Of‐Function Germline Mutations in STAT1: A Systematic Review

10.3389/fimmu.2021.654406 · 2021 · External reference

Novel Gain‐Of‐Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib

10.1007/s10875-019-00687-4 · 2019 · External reference

JAK‐STAT Signaling Pathway, Immunodeficiency, Inflammation, Immune Dysregulation, and Inborn Errors of Immunity

10.1016/j.jaci.2024.09.020 · 2025 · External reference

STAT1 Gain‐Of‐Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation

10.3389/fimmu.2019.01433 · 2019 · External reference

Impact of JAK Inhibitors in Pediatric Patients With STAT1 Gain of Function (GOF) Mutations‐10 Children and Review of the Literature

10.1007/s10875-022-01257-x · 2022 · External reference

DNA‐Binding Domain Mutations Confer Severe Outcome at an Early Age Among STAT1 Gain‐Of‐Function Patients

10.1111/pai.13694 · 2022 · External reference

Improved Outcome of HSCT in STAT1 Gain‐Of‐Function Disease Following JAK Inhibition Bridging

10.70962/jhi.20250027 · 2025 · External reference

Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity

10.3389/fimmu.2021.717388 · 2021 · External reference

Hematopoietic Stem Cell Transplantation in Patients With Gain‐Of‐Function Signal Transducer and Activator of Transcription 1 Mutations

10.1016/j.jaci.2017.03.049 · 2018 · External reference

JAK Inhibitor Treatment for Inborn Errors of JAK/STAT Signaling: An ESID/EBMT‐IEWP Retrospective Study

10.1016/j.jaci.2023.10.018 · 2024 · External reference

Serum Immunoglobulin (IgG, IgM, IgA) and IgG Subclass Concentrations in Healthy Children: A Study Using Nephelometric Technique

10.24953/turkjpediatr.2006.2590 · 2006 · External reference

Peripheral Blood Lymphocyte Subsets in Children With Frequent Upper Respiratory Tract Infections

10.24953/turkjpediatr.2008.2382 · 2008 · External reference

Evaluation of Thymopoiesis in Healthy Turkish Children Aged 0‐6 Years

10.24953/turkjped.2021.5190 · 2023 · External reference

The EUROclass Trial: Defining Subgroups in Common Variable Immunodeficiency

10.1182/blood-2007-06-091744 · 2008 · External reference

Gain‐Of‐Function Human STAT1 Mutations Impair IL‐17 Immunity and Underlie Chronic Mucocutaneous Candidiasis

10.1084/jem.20110958 · 2011 · External reference

Alanine‐Scanning Mutagenesis of Human Signal Transducer and Activator of Transcription 1 to Estimate Loss‐ or Gain‐Of‐Function Variants

10.1016/j.jaci.2016.09.035 · 2017 · External reference

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

10.1038/gim.2015.30 · 2015 · External reference

The Immune Deficiency and Dysregulation Activity (IDDA2.1 “Kaleidoscope”) Score and Other Clinical Measures in Inborn Errors of Immunity

10.1007/s10875-021-01177-2 · 2022 · External reference

Human STAT1 Gain‐Of‐Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

10.1007/s10875-020-00847-x · 2020 · External reference

Heterozygous STAT1 Gain‐Of‐Function Mutations Underlie an Unexpectedly Broad Clinical Phenotype

10.1182/blood-2015-11-679902 · 2016 · External reference

The T385M STAT1 Gain‐Of‐Function Mutation Confers the Most Severe Disease Outcomes

10.3389/fimmu.2025.1717692 · 2025 · External reference

Molecular and Phenotypic Characterization of Nine Patients With STAT1 GOF Mutations in China

10.1007/s10875-019-00688-3 · 2020 · External reference

A Norwegian Cohort With STAT1‐Related Disease ‐ Further Expanding the Clinical Phenotype

10.3389/fimmu.2025.1620291 · 2025 · External reference

Ruxolitinib Partially Reverses Functional Natural Killer Cell Deficiency in Patients With Signal Transducer and Activator of Transcription 1 (STAT1) Gain‐Of‐Function Mutations

10.1016/j.jaci.2017.08.040 · 2018 · External reference

Machine Learning‐Assisted Diagnosis Classification of Primary Immune Dysregulation Using IDDA2.1 Phenotype Profiling

10.1016/j.jaci.2025.10.022 · 2026 · External reference

Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients With STAT1 Gain‐Of‐Function Mutations

10.1007/s10875-024-01720-x · 2024 · External reference

Monogenic Mutations Differentially Affect the Quantity and Quality of T Follicular Helper Cells in Patients With Human Primary Immunodeficiencies

10.1016/j.jaci.2015.05.036 · 2015 · External reference

Systems Immunology Analyses of STAT1 Gain‐Of‐Function Immune Phenotypes Reveal Heterogeneous Response to IL‐6 and Broad Immunometabolic Roles for STAT1

10.4049/immunohorizons.2200041 · 2022 · External reference

Immunophenotyping and Therapeutic Insights From Chronic Mucocutaneous Candidiasis Cases With STAT1 Gain‐Of‐Function Mutations

10.1007/s10875-024-01776-9 · 2024 · External reference

CD3+CD4−CD8− (Double‐Negative) T Cells in Inflammation, Immune Disorders and Cancer

10.3389/fimmu.2022.816005 · 2022 · External reference

Elevated Double Negative T Cells in Pediatric Autoimmunity

10.1007/s10875-014-0038-z · 2014 · External reference

Jakinibs for the Treatment of Immune Dysregulation in Patients With Gain‐Of‐Function Signal Transducer and Activator of Transcription 1 (STAT1) or STAT3 Mutations

10.1016/j.jaci.2018.07.020 · 2018 · External reference

Utility of Ruxolitinib in a Child With Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain‐Of‐Function Mutation

10.1007/s10875-018-0519-6 · 2018 · External reference

Ruxolitinib Treatment of a Patient With Steroid‐Dependent Severe Autoimmunity due to STAT1 Gain‐Of‐Function Mutation

10.1007/s12185-020-02860-7 · 2020 · External reference

Risks of Ruxolitinib in STAT1 Gain‐Of‐Function‐Associated Severe Fungal Disease

10.1093/ofid/ofx202 · 2017 · External reference