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
Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.
Kose H et al.
Frontiers in Immunology, 2026
Targeted Next-Generation Sequencing in the Molecular Diagnosis of Severe Combined Immunodeficiency.
Bakaros E et al.
Medicina (kaunas, Lithuania), 2025
Rare variants and founder effect in the Beauce region of Quebec.
Gagnon M et al.
Communications Biology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025.
Boyarchuk O et al.
Frontiers in Immunology, 2025
Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.
Hicks ED et al.
Journal of Clinical Immunology, 2024
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.
Migliavacca M et al.
Nature Medicine, 2024
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
National experience with adenosine deaminase deficiency related SCID in Polish children.
Dąbrowska-Leonik N et al.
Frontiers in Immunology, 2022
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
Pajno R et al.
Journal of Clinical Immunology, 2020
Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID.
Verhagen MV et al.
Journal of Clinical Immunology, 2020
Neutropenia among patients with adenosine deaminase deficiency.
Kim VH et al.
The Journal of Allergy and Clinical Immunology, 2019
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Cicalese MP et al.
Blood, 2016
Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.
Geelen J et al.
The Journal of Allergy and Clinical Immunology, 2013
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.
la Marca G et al.
The Journal of Allergy and Clinical Immunology, 2013
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.
Grunebaum E et al.
The Journal of Allergy and Clinical Immunology, 2012
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications.
Hönig M et al.
Blood, 2007