Associated Papers
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2.
Jacovas VC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
High Prevalence of Potential Molecular Therapeutic Targets in Poorly Differentiated Thyroid Carcinoma.
Zambelli V et al.
Endocrine Pathology, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2.
Jacovas VC et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child.
Wang X et al.
Human Mutation, 2023
The paradox of cancer genes in non-malignant conditions: implications for precision medicine.
Adashek JJ et al.
Genome Medicine, 2020
Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.
Shahbazi Z et al.
Immunology Letters, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Graft versus host disease and microchimerism in a JAK3 deficient patient.
Shahbazi Z et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2019
JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene.
Di Matteo G et al.
Molecular Genetics & Genomic Medicine, 2018
Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.
Zhong L et al.
Medicine, 2017
Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs.
Pesu M et al.
Immunological Reviews, 2005
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
Notarangelo LD et al.
Human Mutation, 2001
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.
Mella P et al.
Human Mutation, 2001