ArticleThe Journal of allergy and clinical immunology2023
The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.
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Article in The Journal of allergy and clinical immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
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82citing papers in PubMed, 1 pooled it
8.5field-weighted citation impact, top 1% of its field
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Who cites it
82 citing papers in PubMed, 1 synthesis or guideline pooled it, 109 citations in OpenAlex.
- Newborn screening for severe combined immunodeficiency in the NHS newborn blood spot screening programme: a systematic review.Health technology assessment (Winchester, England) · 2026Pooled it
- RAG1 lentiviral gene therapy restores T-cell development of RAG1-SCID patient cells in artificial thymic organoids.Blood advances · 2025Trial
- Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China.Human genetics · 2026Article
- Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates.International journal of neonatal screening · 2026Article
- Clinical and therapeutic impact of newborn screeningbased early detection of ataxia-telangiectasia.Haematologica · 2026Article
- Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.medRxiv : the preprint server for health sciences · 2026Article
- Rebooting immunity in congenital athymia: Factors impacting reconstitution with thymus implantation.Journal of human immunity · 2026Article
- Updated EBMT/ESID inborn errors working party guidelines for haematopoietic stem cell transplantation for inborn errors of immunity and metabolism.Bone marrow transplantation · 2026Review
- Excellent survival after allogeneic HSCT in screened SCID patients and donor type dependent naïve T cell reconstitution.Bone marrow transplantation · 2026Article
- Restoration of the immune system with base editing and non-genotoxic conditioning in a Rag2 point-mutant mouse model.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- [Clinical profile of patients with secondary immunodeficiency on immunoglobulin replacement therapy].Revista medica del Instituto Mexicano del Seguro Social · 2026Observational
- Clinical and genetic landscape of SCID in Yunnan, China: identification of two novel RAG2 variants.Scientific reports · 2026Article
- Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants inJournal of human immunity · 2026Article
- Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia.Journal of human immunity · 2026Article
- BCG arthritis in a patient with Severe Combined Immunodeficiency Disorder (SCID): a case report.BMC pediatrics · 2026Article
- Clinical Significance of IKBKB Mutations:Saudi medical journal · 2026Review
- Outcomes following matched sibling donor transplantation for severe combined immunodeficiency: a report from the PIDTC.Blood advances · 2026Article
- Demographic, clinical, and immunological features in combined immunodeficiency patients: a comparative analysis of those with and without pulmonary manifestations - a multicenter study from Iran.BMC pulmonary medicine · 2026Article
- Article
- Neurodevelopmental outcomes following hematopoietic cell transplantation for patients with severe combined immunodeficiency (SCID): A PIDTC study.Journal of human immunity · 2026Article
22 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors at 15 institutions in 3 countries.
Christopher C DvorakDivision of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, Calif. Electronic address: christopher.dvorak@ucsf.edu.
Elie HaddadDepartment of Pediatrics, University of Montreal, CHU Sainte-Justine, Montreal, Quebec, Canada.
Jennifer HeimallDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, and Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, Pa.
Elizabeth DunnDivision of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, Calif.
Rebecca H BuckleyDivision of Pediatric Allergy and Immunology, Duke University Medical Center, Durham, NC.
Donald B KohnDepartment of Microbiology, Immunology & Molecular Genetics, University of California, Los Angeles, Los Angeles, Calif; Department of Pediatrics, University of California, Los Angeles, Los Angeles, Calif.
Morton J CowanDivision of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, Calif.
Sung-Yun PaiImmune Deficiency Cellular Therapy Program, Center for Cancer Research, National Cancer Institute, Bethesda, Md.
Linda M GriffithDivision of Allergy Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Geoffrey D E CuvelierManitoba Blood and Marrow Transplant Program, CancerCare Manitoba, University of Manitoba, Winnipeg, Manitoba, Canada.
Hesham EissaDivision of Pediatric Hematology-Oncology-BMT, University of Colorado, Aurora, Colo.
Ami J ShahDivision of Pediatric Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Stanford School of Medicine, Palo Alto, Calif.
Richard J O'ReillyDepartment of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, Memorial Sloan Kettering, New York, NY.
Michael A PulsipherDivision of Pediatric Hematology and Oncology, Intermountain Primary Childrens Hospital, Huntsman Cancer Institute at the University of Utah, Salt Lake City, Utah.
Nicola A M WrightDepartment of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.
Roshini S AbrahamDepartment of Pathology and Laboratory Medicine, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, Ohio.
Lisa Forbes SatterPediatric Immunology Allergy and Retrovirology, Baylor College of Medicine, Houston, Tex.
Luigi D NotarangeloDivision of Allergy Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Jennifer M PuckDivision of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, Calif.
University of California, San Francisco · USNational Institutes of Health · USBaylor College of Medicine · USCancerCare Manitoba · CACancer Institute (WIA) · INCentre Hospitalier Universitaire Sainte-Justine · CAChildren's Hospital of Philadelphia · USDuke Medical Center · USIntermountain Healthcare · USMemorial Sloan Kettering Cancer Center · USNationwide Children's Hospital · USStanford Medicine · USUniversity of Calgary · CAUniversity of California, Los Angeles · USUniversity of Colorado Anschutz Medical Campus · US
Funding
Data Resource for Analyzing Blood &Marrow TransplantsU24CA076518 · NCI · MEDICAL COLLEGE OF WISCONSIN · PI Amy M Moskop, Bronwen Shaw · 1998 to 2026
$105.2MPB vs. BMU01HL069294 · NHLBI · MEDICAL COLLEGE OF WISCONSIN · PI HOROWITZ, MARY MARESCA · 2001 to 2010
$63.3MRare Diseases Data Management and Coordinating CenterU01TR001263 · NCATS · UNIVERSITY OF SOUTH FLORIDA · PI KRISCHER, JEFFREY P · 2014 to 2018
$28.1MTraining of Clinical Investigators in Primary Immune DeficienciesU54AI082973 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PUCK, JENNIFER M. · 2009 to 2023
$23.3MData Management and Coordinating Center (DMCC)U54NS064808 · NINDS · UNIVERSITY OF SOUTH FLORIDA · PI KRISCHER, JEFFREY P · 2009 to 2013
$16.5MCharacterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2MPathobiology and treatment of patients with severe combined immunodeficiencyZIABC012039 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI PAI, SUNG-YUN · 2021 to 2025
$4.1MBlood and Marrow Transplant Clinical Trials NetworkU10HL069254 · NHLBI · UNIVERSITY OF UTAH · PI PULSIPHER, MICHAEL A · 2011 to 2016
$839kPrimary Immune Deficiency Treatment Consortium Annual Scientific MeetingR13AI094943 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PUCK, JENNIFER M. · 2011 to 2025
$239kIntramural NIH HHS ZIA AI001222NCATS NIH HHS U01 TR001263NCI NIH HHS U24 CA076518NHLBI NIH HHS U01 HL069294NHLBI NIH HHS U10 HL069254NIAID NIH HHS R13 AI094943NIAID NIH HHS U54 AI082973NINDS NIH HHS U54 NS064808
Abstract
Severe combined immunodeficiency (SCID) results from defects in the differentiation of hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages affected in particular genotypes. In 2014, the Primary Immune Deficiency Treatment Consortium published criteria for diagnosing SCID, which are now revised to incorporate contemporary approaches. Patients with typical SCID must have less than 0.05 × 10
Indexed as
Immunologic Deficiency SyndromesSevere Combined ImmunodeficiencyCD4-Positive T-LymphocytesHumansReceptors, Antigen, T-CellThymus GlandReceptors, Antigen, T-Cellleaky/atypical SCIDnewborn screeningOmenn syndromeSCIDSevere combined immunodeficiencytypical SCID
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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.