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
Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy.
Dorsey MJ et al.
Journal of Clinical Immunology, 2025
40140214 (PubMed )
Supplement: 10875_2025_1873_MOESM1_ESM.pdf
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
National experience with adenosine deaminase deficiency related SCID in Polish children.
Dąbrowska-Leonik N et al.
Frontiers in Immunology, 2022
Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID.
Verhagen MV et al.
Journal of Clinical Immunology, 2020
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
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.
Adams SP et al.
Clinical Immunology (orlando, Fla.), 2015
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
Baffelli R et al.
Journal of Clinical Immunology, 2015
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