ReviewThe Journal of allergy and clinical immunology2019
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
Review in The Journal of allergy and clinical immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01346150 (A Retrospective and Cross-Sectional Analysis of Patients Treated for SCID Since January 1,1968), which is not on this map. Cited by 61 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Retrospective and Cross-Sectional Analysis of Patients Treated for SCID Since January 1,1968 (RDCRN PIDTC-6902)
Who cites it
61 citing papers in PubMed, 130 citations in OpenAlex.
- Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.Blood · 2022Trial
- Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency.Blood · 2021Trial
- Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency.The New England journal of medicine · 2021Trial
- Natural product-based interventions for thyroid disorders: mechanisms and applications.Naunyn-Schmiedeberg's archives of pharmacology · 2026Review
- IL2RG-related immunodeficiencies: from SCID to atypical presentations.Frontiers in immunology · 2026Review
- Hypoxanthine Promotes Pulmonary Vascular Remodeling and Adenosine Deaminase Is a Therapeutic Target for Pulmonary Hypertension.JACC. Basic to translational science · 2025Article
- Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy.Journal of clinical immunology · 2025Observational
- Learning from inborn errors of immunity and secondary immune deficiencies about vaccine immunogenicity, efficacy, and safety.Clinical and experimental immunology · 2025Review
- Inborn errors of immunity (primary immunodeficiencies).Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025Review
- Article
- Clinical applications of gene therapy for rare diseases: A review.International journal of experimental pathology · 2023Review
- A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers.Journal of medical case reports · 2023Article
- Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.World journal of pediatrics : WJP · 2023Article
- Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open-label, single-arm, phase 3, and postmarketing clinical study.Immunity, inflammation and disease · 2023Review
- PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID.Journal of clinical immunology · 2023Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Review
- The quest for the holy grail: overcoming challenges in expanding human hematopoietic stem cells for clinical use.Stem cell investigation · 2023Review
- Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?Clinical medicine insights. Pediatrics · 2023Review
- Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years.Journal of clinical immunology · 2022Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 8 institutions in 4 countries.
Funding
Abstract
Inherited defects in adenosine deaminase (ADA) cause a subtype of severe combined immunodeficiency (SCID) known as severe combined immune deficiency caused by adenosine deaminase defects (ADA-SCID). Most affected infants can receive a diagnosis while still asymptomatic by using an SCID newborn screening test, allowing early initiation of therapy. We review the evidence currently available and propose a consensus management strategy. In addition to treatment of the immune deficiency seen in patients with ADA-SCID, patients should be followed for specific noninfectious respiratory, neurological, and biochemical complications associated with ADA deficiency. All patients should initially receive enzyme replacement therapy (ERT), followed by definitive treatment with either of 2 equal first-line options. If an HLA-matched sibling donor or HLA-matched family donor is available, allogeneic hematopoietic stem cell transplantation (HSCT) should be pursued. The excellent safety and efficacy observed in more than 100 patients with ADA-SCID who received gammaretrovirus- or lentivirus-mediated autologous hematopoietic stem cell gene therapy (HSC-GT) since 2000 now positions HSC-GT as an equal alternative. If HLA-matched sibling donor/HLA-matched family donor HSCT or HSC-GT are not available or have failed, ERT can be continued or reinstituted, and HSCT with alternative donors should be considered. The outcomes of novel HSCT, ERT, and HSC-GT strategies should be evaluated prospectively in "real-life" conditions to further inform these management guidelines.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.