ArticleThe Journal of allergy and clinical immunology2023
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.
Open access · bronzeAbstract read
In one paragraph
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 23 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 2 pooled it
3.1field-weighted citation impact, top 7% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 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
- Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022).Journal of clinical immunology · 2023Pooled it
- T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.Cell biochemistry and biophysics · 2026Article
- Outcomes following matched sibling donor transplantation for severe combined immunodeficiency: a report from the PIDTC.Blood advances · 2026Article
- Identification of novelFrontiers in genetics · 2026Article
- Review
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- Advancing precision care in pregnancy through a treatable fetal findings list.American journal of human genetics · 2025Review
- Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.Orphanet journal of rare diseases · 2025Article
- Correlation Analysis of Human Immunological Indicators and Nosocomial Infections, Along With Evaluation Value for Prognosis.Journal of immunology research · 2025Article
- IL-7-dependent and -independent lineages of IL-7R-dependent human T cells.The Journal of clinical investigation · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.Journal of clinical immunology · 2024Article
- Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.American journal of human genetics · 2024Article
- Mutational analysis in different genes underlying severe combined immunodeficiency in seven consanguineous Pakistani families.Molecular biology reports · 2024Article
- Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency.Science translational medicine · 2024Article
- Assistance of next-generation sequencing for diagnosis of disseminated Bacillus Calmette-Guerin disease with X-SCID in an infant: a case report and literature review.Frontiers in cellular and infection microbiology · 2024Review
- Case report: Identification of a Chinese patient withFrontiers in immunology · 2024Article
- Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.Frontiers in immunology · 2024Article
- Case report: Artificial thymic organoids facilitate clinical decisions for a patient with aFrontiers in immunology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
51 authors at 20 institutions in 4 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 the 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.
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.
Neena KapoorHematology, Oncology and TCT, Children's Hospital Los Angeles, Los Angeles, Calif.
Lisa Forbes SatterPediatric Immunology Allergy and Retrovirology, Baylor College of Medicine, Houston, Tex.
Rebecca H BuckleyDivision of Pediatric Allergy and Immunology, Duke University Medical Center, Durham, NC.
Richard J O'ReillyDepartment of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, Memorial Sloan Kettering, New York, NY.
Sharat ChandraDivision of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Jeffrey J BednarskiDivision of Pediatric Hematology and Oncology, Washington University School of Medicine, St Louis, Mo.
Olatundun WilliamsAnn and Robert H. Lurie Children's Hospital of Chicago, Chicago, Ill.
Ahmad RayesDivision of Pediatric Hematology and Oncology, Intermountain Primary Childrens Hospital, Huntsman Cancer Institute at the University of Utah, Salt Lake City, Utah.
Theodore B MooreDepartment of Pediatrics, UCLA David Geffen School of Medicine, Los Angeles, Calif.
Christen L EbensDivision of Pediatric Blood and Marrow Transplantation & Cellular Therapy, University of Minnesota, Minneapolis, Minn.
Blachy J Davila SaldanaDivision of Bone and Marrow Transplantation, Children's National Hospital, Washington, DC.
Aleksandra PetrovicDivision of Pediatric Immunology and Bone Marrow Transplantation, University of Washington, Seattle Children's Hospital, Seattle, Wash.
Deepak ChellapandianCenter for Cell and Gene Therapy for Non Malignant Conditions, Johns Hopkins All Children's Hospital, St Petersburg, Fla.
Geoffrey D E CuvelierManitoba Blood and Marrow Transplant Program, CancerCare Manitoba, University of Manitoba, Winnipeg, Manitoba, Canada.
Mark T Vander LugtBlood and Marrow Transplant Program, University of Michigan, Ann Arbor, Mich.
Emi H CaywoodNemours Children's Health Delaware, Thomas Jefferson University, Wilmington, Del.
Shanmuganathan ChandrakasanBone Marrow Transplantation Program, Aflac Cancer and Blood Disorders Center, Department of Pediatrics, Emory University School of Medicine, Atlanta, Ga.
Hesham EissaDivision of Pediatric Hematology-Oncology-BMT, University of Colorado, Aurora, Colo.
Frederick D GoldmanDivision of Hematology/Oncology/BMT, Department of Pediatrics, University of Alabama, Birmingham, Ala.
Evan ShereckDivision of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, Ore.
Victor M AquinoDivision of Pediatric Hematology, Oncology and Stem Cell Transplantation, University of Texas Southwestern Medical Center, Dallas, Tex.
Kenneth B DesantesDivision of Pediatric Heme/Onc & Bone Marrow Transplant, University of Wisconsin School of Medicine, Madison, Wis.
Lisa M MaddenPediatric Bone Marrow Transplant Program, Texas Transplant Institute, San Antonio, Tex.
Holly K MillerPhoenix Children's Hospital, Phoenix, Ariz.
Lolie YuDivision of Pediatric Hematology-Oncology/HSCT, LSUHSC and Children's Hospital, New Orleans, La.
Larisa BroglieDivision of Pediatric Hematology, Oncology, and Blood and Marrow Transplantation, Medical College of Wisconsin, Milwaukee, Wis.
Alfred GillioJoseph M. Sanzani's Children's Hospital at Hackensack University Medical Center, Hackensack, NJ.
Ami J ShahDivision of Pediatric Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Stanford School of Medicine, Palo Alto, Calif.
Alan P KnutsenDivision of Pediatric Allergy & Immunology, Saint Louis University, St Louis, Mo.
Jeffrey P AndolinaDepartment of Pediatrics, Golisano Children's Hospital, University of Rochester, Rochester, NY.
Avni Y JoshiDivision of Pediatric Allergy and Immunology, Mayo Clinic Childrens Center, Rochester, Minn.
Paul SzabolcsDivision of Blood and Marrow Transplantation and Cellular Therapies, University of Pittsburgh School of Medicine, Pittsburgh, Pa.
Malika KapadiaDivision of Pediatric Oncology, Dana Farber/Boston Children's Cancer and Blood Disorders Center, Department of Pediatrics, Harvard University Medical School, Boston, Mass.
Caridad A MartinezHematology/Oncology/BMT, Texas Children's Hospital, Baylor College of Medicine, Houston, Tex.
Roberta E ParrotDivision of Pediatric Allergy and Immunology, Duke University Medical Center, Durham, NC.
Kathleen E SullivanDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and the Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, Pa.
Susan E ProckopDivision of Pediatric Oncology, Dana Farber/Boston Children's Cancer and Blood Disorders Center, Department of Pediatrics, Harvard University Medical School, Boston, Mass.
Roshini S AbrahamDepartment of Pathology and Laboratory Medicine, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, Ohio.
Monica S ThakarClinical Research Division, Fred Hutchinson Cancer Research Center, Department of Pediatrics, University of Washington, Seattle, Wash.
Jennifer W LeidingDivision of Allergy and Immunology, Department of Pediatrics, Johns Hopkins University, Baltimore, Md.
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.
Michael A PulsipherDivision of Pediatric Hematology and Oncology, Intermountain Primary Childrens Hospital, Huntsman Cancer Institute at the University of Utah, Salt Lake City, Utah.
Linda M GriffithDivision of Allergy Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
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 · USBaylor College of Medicine · USChildren's Hospital of Philadelphia · USDuke Medical Center · USHarvard University · USIntermountain Healthcare · USJohns Hopkins University · USNational Institutes of Health · USUniversity of California, Los Angeles · USCancerCare Manitoba · CACancer Institute (WIA) · INCentre Hospitalier Universitaire Sainte-Justine · CAChildren's Center · USChildren's Hospital of Los Angeles · USChildren's Hospital of New Orleans · USChildren's National · USCHRISTUS Transplant Institute · USCincinnati Children's Hospital Medical Center · USEmory University · USGolisano Children's Hospital · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4MData Resource for Analyzing Blood &Marrow TransplantsU24CA076518 · NCI · MEDICAL COLLEGE OF WISCONSIN · PI Amy M Moskop, Bronwen Shaw · 1998 to 2026
$105.2MUTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jared P Rutter · 1986 to 2026
$72.6MPB 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
$15.2MRandomized study of low versus moderate dose busulfan in transplant for severe combined immunodeficiencyU01AI126612 · NIAID · CHILDREN'S HOSPITAL OF LOS ANGELES · PI KEAN, LESLIE S, PULSIPHER, MICHAEL A · 2017 to 2023
$8.5MPathobiology and treatment of patients with severe combined immunodeficiencyZIABC012039 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI PAI, SUNG-YUN · 2021 to 2025
$4.1MUnrelated Donor BMT vs. Immune Suppression for Newly Diagnosed Severe Aplastic Anemia in Children and Young Adults: BMT CTN Core Center Renewal for the Pediatric Blood and Marrow Transplant ConsortiumUG1HL069254 · NHLBI · CHILDREN'S HOSPITAL OF LOS ANGELES · PI KEAN, LESLIE S · 2017 to 2023
$1.3MBlood and Marrow Transplant Clinical Trials NetworkU10HL069254 · NHLBI · UNIVERSITY OF UTAH · PI PULSIPHER, MICHAEL A · 2011 to 2016
$839kIntramural NIH HHS ZIA AI001222NCATS NIH HHS U01 TR001263NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA042014NCI NIH HHS U24 CA076518NHLBI NIH HHS U01 HL069294NHLBI NIH HHS U10 HL069254NHLBI NIH HHS UG1 HL069254NIAID NIH HHS R13 AI094943NIAID NIH HHS U01 AI126612NIAID NIH HHS U54 AI082973NINDS NIH HHS U54 NS064808
Abstract
backgroundShearer et al in 2014 articulated well-defined criteria for the diagnosis and classification of severe combined immunodeficiency (SCID) as part of the Primary Immune Deficiency Treatment Consortium's (PIDTC's) prospective and retrospective studies of SCID.
objectiveBecause of the advent of newborn screening for SCID and expanded availability of genetic sequencing, revision of the PIDTC 2014 Criteria was needed.
methodsWe developed and tested updated PIDTC 2022 SCID Definitions by analyzing 379 patients proposed for prospective enrollment into Protocol 6901, focusing on the ability to distinguish patients with various SCID subtypes.
resultsAccording to PIDTC 2022 Definitions, 18 of 353 patients eligible per 2014 Criteria were considered not to have SCID, whereas 11 of 26 patients ineligible per 2014 Criteria were determined to have SCID. Of note, very low numbers of autologous T cells (<0.05 × 10
conclusionsThe PIDTC 2022 Definitions describe SCID and its subtypes more precisely than before, facilitating analyses of SCID characteristics and outcomes.
Indexed as
Severe Combined ImmunodeficiencyHomeodomain ProteinsHumansInfantInfant, NewbornProspective StudiesRetrospective StudiesHomeodomain Proteinsleaky/atypical SCIDnewborn screeningOmenn syndromeSCIDSevere combined immunodeficiencytypical SCID
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
None linked
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.