Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.V637M
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STAT3

NM_139276.3:p.V637M

Associated Papers

Recurrent severe infections in a child with STAT3-associated hyper-IgE syndrome.

Asifa NN et al.

Jaad Case Reports, 2026

STAT3 regulates NK and NKT cell differentiation through C-X3-C motif chemokine receptor 1  (CX3CR1) in hyper-IgE syndrome.

Liu J et al.

Molecular Biomedicine, 2025

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2

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

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

Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.

Ashihara K et al.

Jci Insight, 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 Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.

Salehi M et al.

Health Science Reports, 2025

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2

Hyper-IgE Syndrome: A Case Report with Insights from Bioinformatics Analysis of Key Pathways and Genes.

Li J et al.

Infection and Drug Resistance, 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

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

Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure.

Saito K et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

Single-cell multi-omics sequencing reveals the immunological disturbance underlying STAT3-V637M Hyper-IgE syndrome.

Zhong J et al.

International Immunopharmacology, 2023

STAT3 mutation-associated airway epithelial defects in Job syndrome.

Zhang Y et al.

The Journal of Allergy and Clinical 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

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

Kasembeli MM et al.

Blood, 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

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

Tar I et al.

Central-european Journal of Immunology, 2023

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

The role of understudied post-translational modifications for the behavior and function of Signal Transducer and Activator of Transcription 3.

Diallo M et al.

The Febs Journal, 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

Evaluation of the putative lymphoma-associated point mutation D427H in the STAT3 transcription factor.

Behrendsen LS et al.

Bmc Molecular and Cell Biology, 2022

Recurrent Breast Abscesses in a Female with Autosomal Dominant Hyper-IgE Syndrome.

Szafron V et al.

Journal of Clinical Immunology, 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

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.

Baxter SK et al.

The Journal of Allergy and Clinical Immunology, 2022

Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.

Tengsujaritkul M et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

Omalizumab for STAT3 Hyper-IgE Syndromes in Adulthood: A Case Report and Literature Review.

Lan J et al.

Frontiers in Medicine, 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

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.

Shamriz O et al.

Frontiers in Immunology, 2022

STAT3 is critical for skeletal development and bone homeostasis by regulating osteogenesis.

Zhou S et al.

Nature Communications, 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

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Asano T et al.

The Journal of Experimental Medicine, 2021

Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome.

Harrison SC et al.

Journal of Clinical Immunology, 2021

Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.

Tanita K et al.

Journal of Clinical Immunology, 2021

Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.

Tanita K et al.

Journal of Clinical Immunology, 2021

Delayed diagnosis of hyperimmunoglobulin E syndrome with STAT3 mutation in mainland China: a case report and literature review.

Fang J et al.

The Journal of International Medical Research, 2021

Clinical Profile of Hyper-IgE Syndrome in India.

Saikia B et al.

Frontiers in Immunology, 2021

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