Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.R382Q
Back to variants list

STAT3

NM_139276.3:p.R382Q

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

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

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

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

Genetic Background of Eosinophilic Esophagitis and Esophageal Atresia in Children.

Ulkersoy I et al.

Digestive Diseases and Sciences, 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

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

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

Rubey KM et al.

Life Science Alliance, 2024

Obstructive uropathy in STAT 3 hyper immunoglobulin E syndrome: A 5 year old Middle Eastern boy.

Bukhari EM et al.

Saudi Medical Journal, 2024

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

A challenging differential diagnosis in a patient with autosomal dominant STAT3 deficiency.

Bravo-Queipo-de-Llano B et al.

Pediatric Pulmonology, 2023

Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.

Jacob M et al.

International Journal of Molecular Sciences, 2023

Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.

Flümann R et al.

Blood Cancer Discovery, 2023

36346827 (PubMed )
Supplement: bcd-22-0007_table_s6_suppst6.xlsx › D_Mut_Pat.__3

Disseminated BCG Disease in a Patient with Hyper IgE Syndrome due to Dominant-Negative STAT3 Mutation-Case Report.

Urdinez L et al.

Journal of Clinical Immunology, 2023

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

Tar I et al.

Central-european Journal of Immunology, 2023

C-terminal deletion-induced condensation sequesters AID from IgH targets in immunodeficiency.

Xie X et al.

The Embo Journal, 2022

35471583 (PubMed )
Supplement: EMBJ-41-e109324-s004.pdf

Malignancy in STAT3 Deficient Hyper IgE Syndrome.

Urban A et al.

Journal of Clinical Immunology, 2022

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

Lan J et al.

Frontiers in Medicine, 2022

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

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

34137790 (PubMed )
Supplement: JEM_20202592_TableS3.xlsx › Table_S2

Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing.

Eberherr AC et al.

The Crispr Journal, 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

Defective Toll-Like Receptors Driven B Cell Response in Hyper IgE Syndrome Patients With STAT3 Mutations.

Gong R et al.

Frontiers in Pediatrics, 2021

Staphylococcus aureus and Hyper-IgE Syndrome.

Park B et al.

International Journal of Molecular Sciences, 2020

STAT3 modulates reprogramming efficiency of human somatic cells; insights from autosomal dominant Hyper IgE syndrome caused by STAT3 mutations.

Yu Z et al.

Biology Open, 2020

Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential.

Meixner I et al.

Orphanet Journal of Rare Diseases, 2020

Autosomal dominant hyper IgE syndrome from a single centre in Chongqing, China (2009-2018).

Xiang Q et al.

Scandinavian Journal of Immunology, 2020

Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome.

Ponsford MJ et al.

Frontiers in Pediatrics, 2020

Impaired memory B-cell development and antibody maturation with a skewing toward IgE in patients with STAT3 hyper-IgE syndrome.

van de Veen W et al.

Allergy, 2019

Lung disease in STAT3 hyper-IgE syndrome requires intense therapy.

Kröner C et al.

Allergy, 2019

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.

Khourieh J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long-term follow-up and genetic analysis.

Tavassoli M et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019

Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports.

Deng Y et al.

Medicine, 2019

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.

Mensa-Vilaró A et al.

The Journal of Allergy and Clinical Immunology, 2019

A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome.

Chaimowitz NS et al.

Frontiers in Pediatrics, 2019

The effects of signal transducer and activator of transcription three mutations on human platelets.

Aleva FE et al.

Platelets, 2018

1–50 of 97 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."