Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.R382W
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STAT3

NM_139276.3:p.R382W

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

Clinical relevance of mosaic variants detected by exome sequencing.

Ghosh R et al.

The Journal of Allergy and Clinical Immunology, 2026

STAT3-Mutated Hyper-IgE Syndrome With Retroperitoneal Abscess in Adolescence.

Sugiyama H et al.

Clinical Case Reports, 2026

Job's not done: BCG-itis as the first manifestation of hyper-IgE syndrome. A case report and review of the literature.

Staines-Boone AT et al.

Clinical Immunology (orlando, Fla.), 2026

Efficacy of omalizumab in the treatment of STAT3 loss-of-function mutations associated with autosomal dominant hyperimmunoglobulin E syndrome-a case report.

Li H et al.

Translational Pediatrics, 2025

Eosinophilic Pustular Folliculitis in a Child With Hyper-IgE Syndrome: A Case Report Emphasizing the Importance of Immunodeficiency Screening in Infancy.

Masuo Y et al.

The Journal of Dermatology, 2025

A Novel Hypomorphic STAT3 Gene Variant in a 7-year-old Male with Hyper-IgE Syndrome.

Higashigawa T et al.

Journal of Clinical Immunology, 2025

STAT3-Dependent Regulation of CFTR and Ciliogenesis Is Essential for Mucociliary Clearance and Innate Airway Defense in Hyper-IgE Syndrome.

Sun L et al.

American Journal of Respiratory and Critical Care Medicine, 2025

Clinical analysis of hyperimmunoglobulin E syndrome in children with STAT3 and DOCK8 mutations in different genotypes.

Xu CD et al.

Translational Pediatrics, 2025

STAT3 haploinsufficiency is associated with autosomal dominant hyper-IgE syndrome.

Andreani V et al.

Science Advances, 2025

Registry-Based Frequency and Clinical Characteristics of Inborn Errors of Immunity in Kazakhstan: A Retrospective Observational Cohort Study (2009-2023).

Sikhayeva N et al.

Journal of Clinical Medicine, 2025

Signal Transducer and Activator of Transcription 3 (STAT3) Variant p.K709N Causes Hyper-IgE Syndrome Likely by Impaired STAT3-Dimer Formation.

Hagl B et al.

European Journal of Immunology, 2025

Pulmonary features and stage of disease in adult patients with hyper-IgE syndrome: a single-centre clinical study and literature review.

Xie T et al.

Orphanet Journal of Rare Diseases, 2025

Hyper IgE Syndrome: Bridging the Gap Between Immunodeficiency, Atopy, and Allergic Diseases.

Sutanto H et al.

Current Allergy and Asthma Reports, 2025

Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.

Salehi M et al.

Health Science Reports, 2025

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.

Lima de Souza S et al.

Journal of Clinical Immunology, 2025

Case Report: Biliary hemorrhage by intrahepatic pseudoaneurysm and asymptomatic right coronary artery pseudoaneurysm in a patient with STAT3 hyper IgE syndrome.

Fujita D et al.

Frontiers in Immunology, 2025

Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.

Godinez-Zamora GF et al.

Frontiers in Immunology, 2025

41190063 (PubMed )
Supplement: Table2.xlsx › Sheet1

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

STAT3 c.1915C > T variant-associated Hyper-IgE syndrome in a child: a case report.

Dai Q et al.

Frontiers in Pediatrics, 2025

Neutrophil-avid nanocarrier uptake by STAT3 dominant-negative hyper-IgE syndrome patient neutrophils.

Rubey KM et al.

Life Science Alliance, 2024

Dysregulated Airway Host Defense in Hyper IgE Syndrome due to STAT3 Mutations.

Sun L et al.

Biorxiv : the Preprint Server for Biology, 2024

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.

Aykut A et al.

Immunologic Research, 2024

STAT3 is a genetic modifier of TGF-beta induced EMT in KRAS mutant pancreatic cancer.

D'Amico S et al.

Elife, 2024

Unraveling the unphosphorylated STAT3-unphosphorylated NF-κB pathway in loss of function STAT3 Hyper IgE syndrome.

Karim A et al.

Frontiers in Immunology, 2024

STAT3 is a genetic modifier of TGF-beta induced EMT in KRAS mutant pancreatic cancer.

D'Amico S et al.

Biorxiv : the Preprint Server for Biology, 2023

STAT3 mutation-associated airway epithelial defects in Job syndrome.

Zhang Y et al.

The Journal of Allergy and Clinical Immunology, 2023

Gene editing with 'pencil' rather than 'scissors' in human pluripotent stem cells.

Park JC et al.

Stem Cell Research & Therapy, 2023

The ups and downs of STAT3 function: too much, too little and human immune dysregulation.

Mackie J et al.

Clinical and Experimental Immunology, 2023

Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job's syndrome.

Carrabba M et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023

Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome.

Abbara S et al.

Journal of Clinical Immunology, 2023

Aberrant function of pathogenic STAT3 mutant proteins is linked to altered stability of monomers and homodimers.

Kasembeli MM et al.

Blood, 2023

Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.

Al-Tamemi S et al.

Journal of Clinical Immunology, 2023

In Silico Analyses of All STAT3 Missense Variants Leading to Explore Divergent AD-HIES Clinical Phenotypes.

Mansouri M et al.

Evolutionary Bioinformatics Online, 2023

Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.

Kwon SS et al.

Frontiers in Immunology, 2023

Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome.

Tar I et al.

Central-european Journal of Immunology, 2023

Clearance of atypical cutaneous manifestations of hyper-IgE syndrome with dupilumab.

Nihal A et al.

Pediatric Dermatology, 2022

Allele-Specific Disruption of a Common STAT3 Autosomal Dominant Allele Is Not Sufficient to Restore Downstream Signaling in Patient-Derived T Cells.

König S et al.

Genes, 2022

Treosulfan-based Reduced-intensity Allogeneic Hematopoietic Cell Transplantation in Adults With Primary Immunodeficiency: A Case Series.

Dalla Via V et al.

Anticancer Research, 2022

Malignancy in STAT3 Deficient Hyper IgE Syndrome.

Urban A et al.

Journal of Clinical Immunology, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies.

Halacli SO

Immunologic Research, 2022

Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.

Al Farsi T et al.

Frontiers in Immunology, 2022

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