Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
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
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
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
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.
Asano T et al.
The Journal of Experimental Medicine, 2021
Clinical Profile of Hyper-IgE Syndrome in India.
Saikia B et al.
Frontiers in Immunology, 2021
Genetic variants in children with chronic respiratory diseases.
Alsamri MT et al.
Pediatric Pulmonology, 2020
Phospho-Ser727 triggers a multistep inactivation of STAT3 by rapid dissociation of pY705-SH2 through C-terminal tail modulation.
Yang J et al.
International Immunology, 2020
Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.
de Araujo ED et al.
Cancers, 2019
STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome.
Goel S et al.
Frontiers in Immunology, 2018
Hyper IgE recurrent infection syndrome in South Asia: is there a different outcome?
de Silva R et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2018
Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses.
Saikia B et al.
Indian Journal of Pediatrics, 2017
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.
Bocchini CE et al.
Blood, 2016
TH17 Cells in STAT3 Related Hyper-IgE Syndrome.
Sharma S et al.
Indian Journal of Pediatrics, 2016
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.
Schimke LF et al.
The Journal of Allergy and Clinical Immunology, 2010
Rapid and precise diagnosis of T. marneffei pulmonary infection in a HIV-negative patient with autosomal-dominant STAT3 mutation: a case report.
Zhang W et al.
Therapeutic Advances in Respiratory Disease, 0