Associated Papers
Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case report.
Liang X et al.
Bmc Infectious Diseases, 2025
Immunological and molecular study in children with combined immunodeficiency.
Kholoussi S et al.
European Annals of Allergy and Clinical Immunology, 2024
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.
Zhao M et al.
Frontiers in Genetics, 2023
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Recent advances in elucidating the genetics of common variable immunodeficiency.
Aggarwal V et al.
Genes & Diseases, 2020
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy.
Cifaldi C et al.
Clinical Immunology (orlando, Fla.), 2016
Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.
Ulusoy E et al.
Journal of Clinical Medicine Research, 2016
Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2015
RAG1 reversion mosaicism in a patient with Omenn syndrome.
Crestani E et al.
Journal of Clinical Immunology, 2014
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN et al.
The Journal of Allergy and Clinical Immunology, 2014
Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.
Stoddard JL et al.
Frontiers in Immunology, 2014
Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
Kutukculer N et al.
Italian Journal of Pediatrics, 2012
Consanguinity rate and delay in diagnosis in Turkish patients with combined immunodeficiencies: a single-center study.
Azarsiz E et al.
Journal of Clinical Immunology, 2011
Cyclosporin treatment improves skin findings in omenn syndrome.
Caglayan Sozmen S et al.
Pediatric Dermatology, 0
Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies.
Goda V et al.
The Journal of Allergy and Clinical Immunology. in Practice, 0