ArticlePediatric transplantation2011
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID.
Article in Pediatric transplantation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.Journal of clinical immunology · 2024Article
- Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.Journal of clinical immunology · 2021Review
- Naturally Occurring Genetic Alterations in Proximal TCR Signaling and Implications for Cancer Immunotherapy.Frontiers in immunology · 2021Review
- Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.Allergy, asthma & immunology research · 2020Article
- Genetics of severe combined immunodeficiency.Genes & diseases · 2020Review
- JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene.Molecular genetics & genomic medicine · 2018Article
- Unbalanced Immune System: Immunodeficiencies and Autoimmunity.Frontiers in pediatrics · 2016Review
- Primary Immune Deficiency Treatment Consortium (PIDTC) report.The Journal of allergy and clinical immunology · 2014Article
- Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies.The journal of allergy and clinical immunology. In practiceReview
Corrections and comments
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Authors and funding
14 authors at 11 institutions in 2 countries.
Funding
Abstract
There are few reports of clinical presentation, genotype, and HCT outcomes for patients with T-B+NK+ SCID. Between 1981 and 2007, eight of 84 patients with SCID who received and/or were followed after HCT at UCSF had the T-B+NK+ phenotype. One additional patient with T-B+NK+ SCID was identified as the sibling of a patient treated at UCSF. Chart reviews were performed. Molecular analyses of IL7R, IL2RG, JAK3, and the genes encoding the CD3 T-cell receptor components δ (CD3D), ε (CD3E), and ζ (CD3Z) were carried out. IL7R mutations were documented in four patients and CD3D mutations in two others. Three patients had no defects found. Only two of nine patients had an HLA-matched related HCT donor. Both survived, and neither developed GVHD. Five of seven recipients of haploidentical grafts survived. Although the majority of reported cases of T-B+NK+ SCID are caused by defects in IL7R, CD3 complex defects were also found in this series and should be considered when evaluating patients with T-B+NK+ SCID. Additional genes, mutations in which account for T-B+NK+ SCID, remain to be found. Better approaches to early diagnosis and HCT treatment are needed for patients lacking an HLA-matched related donor.
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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.