The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.

Infant, Newborn Humans Infant Severe Combined Immunodeficiency / diagnosis Retrospective Studies Prospective Studies Homeodomain Proteins / genetics
Omenn syndrome SCID Severe combined immunodeficiency leaky/atypical SCID newborn screening typical SCID

Journal

The Journal of allergy and clinical immunology
ISSN: 1097-6825
Titre abrégé: J Allergy Clin Immunol
Pays: United States
ID NLM: 1275002

Informations de publication

Date de publication:
02 2023
Historique:
received: 18 08 2022
revised: 18 10 2022
accepted: 21 10 2022
pmc-release: 01 02 2024
pubmed: 2 12 2022
medline: 8 2 2023
entrez: 1 12 2022
Statut: ppublish

Résumé

Shearer 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. Because of the advent of newborn screening for SCID and expanded availability of genetic sequencing, revision of the PIDTC 2014 Criteria was needed. We 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. According 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 The PIDTC 2022 Definitions describe SCID and its subtypes more precisely than before, facilitating analyses of SCID characteristics and outcomes.

Sections du résumé

BACKGROUND
Shearer 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.
OBJECTIVE
Because of the advent of newborn screening for SCID and expanded availability of genetic sequencing, revision of the PIDTC 2014 Criteria was needed.
METHODS
We 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.
RESULTS
According 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
CONCLUSIONS
The PIDTC 2022 Definitions describe SCID and its subtypes more precisely than before, facilitating analyses of SCID characteristics and outcomes.

Identifiants

DOI: 10.1016/j.jaci.2022.10.021 PMID: 36456360 PMC: PMC9905305
pubmed: 36456360
pii: S0091-6749(22)01478-6
doi: 10.1016/j.jaci.2022.10.021
pmc: PMC9905305
mid: NIHMS1862511
pii:
doi:

Substances chimiques

Homeodomain Proteins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

547-555.e5

Subventions

Organisme : Intramural NIH HHS
ID : ZIA AI001222
Pays : United States
Organisme : NIAID NIH HHS
ID : U54 AI082973
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL069294
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NHLBI NIH HHS
ID : UG1 HL069254
Pays : United States
Organisme : NIAID NIH HHS
ID : U01 AI126612
Pays : United States
Organisme : NCATS NIH HHS
ID : U01 TR001263
Pays : United States
Organisme : NHLBI NIH HHS
ID : U10 HL069254
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS064808
Pays : United States
Organisme : NIAID NIH HHS
ID : R13 AI094943
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA042014
Pays : United States
Organisme : NCI NIH HHS
ID : U24 CA076518
Pays : United States

Informations de copyright

Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.

Références

J Clin Immunol. 2020 Jan;40(1):24-64
pubmed: 31953710
Blood. 1996 Nov 1;88(9):3513-21
pubmed: 8896418
Nat Med. 2020 Sep;26(9):1392-1397
pubmed: 32778825
J Allergy Clin Immunol. 2008 Dec;122(6):1087-96
pubmed: 18992926
J Clin Immunol. 2013 Oct;33(7):1156-64
pubmed: 23818196
Blood Adv. 2020 Jun 23;4(12):2606-2610
pubmed: 32556280
J Allergy Clin Immunol. 2019 Jan;143(1):405-407
pubmed: 30193840
J Clin Immunol. 2016 Oct;36(7):713-24
pubmed: 27438785
Pediatrics. 2019 Feb;143(2):
pubmed: 30683812
J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8
pubmed: 27405666
Blood Adv. 2020 Jun 23;4(12):2611-2616
pubmed: 32556283
Semin Immunopathol. 2021 Feb;43(1):85-100
pubmed: 33257998
Blood. 2018 Oct 25;132(17):1737-1749
pubmed: 30154114
N Engl J Med. 2014 Jul 31;371(5):434-46
pubmed: 25075835
J Allergy Clin Immunol. 2014 Apr;133(4):1092-8
pubmed: 24290292
J Clin Immunol. 2018 Apr;38(3):320-329
pubmed: 29675737
Blood. 2017 Dec 21;130(25):2718-2727
pubmed: 29021228
J Allergy Clin Immunol. 2021 Feb;147(2):417-426
pubmed: 33551023
J Allergy Clin Immunol. 2013 Jun;131(6):1604-10
pubmed: 23280131
J Allergy Clin Immunol. 2009 Dec;124(6):1152-60.e12
pubmed: 20004776
J Allergy Clin Immunol. 2022 Mar;149(3):1113-1119
pubmed: 34384841
N Engl J Med. 2016 Dec;375(22):2165-2176
pubmed: 27959755
J Allergy Clin Immunol. 2012 Mar;129(3):607-16
pubmed: 22285280
J Allergy Clin Immunol. 2020 Mar;145(3):1008-1011
pubmed: 31775018

Auteurs

Christopher C Dvorak (CC)

Division of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, Calif. Electronic address: Christopher.dvorak@ucsf.edu.

Elie Haddad (E)

Department of Pediatrics, University of Montreal, CHU Sainte-Justine, Montreal, Quebec, Canada.

Jennifer Heimall (J)

Department 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 Dunn (E)

Division of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, Calif.

Morton J Cowan (MJ)

Division of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, Calif.

Sung-Yun Pai (SY)

Immune Deficiency Cellular Therapy Program, Center for Cancer Research, National Cancer Institute, Bethesda, Md.

Neena Kapoor (N)

Hematology, Oncology and TCT, Children's Hospital Los Angeles, Los Angeles, Calif.

Lisa Forbes Satter (LF)

Pediatric Immunology Allergy and Retrovirology, Baylor College of Medicine, Houston, Tex.

Rebecca H Buckley (RH)

Division of Pediatric Allergy and Immunology, Duke University Medical Center, Durham, NC.

Richard J O'Reilly (RJ)

Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, Memorial Sloan Kettering, New York, NY.

Sharat Chandra (S)

Division 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 Bednarski (JJ)

Division of Pediatric Hematology and Oncology, Washington University School of Medicine, St Louis, Mo.

Olatundun Williams (O)

Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Ill.

Ahmad Rayes (A)

Division of Pediatric Hematology and Oncology, Intermountain Primary Childrens Hospital, Huntsman Cancer Institute at the University of Utah, Salt Lake City, Utah.

Theodore B Moore (TB)

Department of Pediatrics, UCLA David Geffen School of Medicine, Los Angeles, Calif.

Christen L Ebens (CL)

Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy, University of Minnesota, Minneapolis, Minn.

Blachy J Davila Saldana (BJ)

Division of Bone and Marrow Transplantation, Children's National Hospital, Washington, DC.

Aleksandra Petrovic (A)

Division of Pediatric Immunology and Bone Marrow Transplantation, University of Washington, Seattle Children's Hospital, Seattle, Wash.

Deepak Chellapandian (D)

Center for Cell and Gene Therapy for Non Malignant Conditions, Johns Hopkins All Children's Hospital, St Petersburg, Fla.

Geoffrey D E Cuvelier (GDE)

Manitoba Blood and Marrow Transplant Program, CancerCare Manitoba, University of Manitoba, Winnipeg, Manitoba, Canada.

Mark T Vander Lugt (MT)

Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, Mich.

Emi H Caywood (EH)

Nemours Children's Health Delaware, Thomas Jefferson University, Wilmington, Del.

Shanmuganathan Chandrakasan (S)

Bone Marrow Transplantation Program, Aflac Cancer and Blood Disorders Center, Department of Pediatrics, Emory University School of Medicine, Atlanta, Ga.

Hesham Eissa (H)

Division of Pediatric Hematology-Oncology-BMT, University of Colorado, Aurora, Colo.

Frederick D Goldman (FD)

Division of Hematology/Oncology/BMT, Department of Pediatrics, University of Alabama, Birmingham, Ala.

Evan Shereck (E)

Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, Ore.

Victor M Aquino (VM)

Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, University of Texas Southwestern Medical Center, Dallas, Tex.

Kenneth B Desantes (KB)

Division of Pediatric Heme/Onc & Bone Marrow Transplant, University of Wisconsin School of Medicine, Madison, Wis.

Lisa M Madden (LM)

Pediatric Bone Marrow Transplant Program, Texas Transplant Institute, San Antonio, Tex.

Holly K Miller (HK)

Phoenix Children's Hospital, Phoenix, Ariz.

Lolie Yu (L)

Division of Pediatric Hematology-Oncology/HSCT, LSUHSC and Children's Hospital, New Orleans, La.

Larisa Broglie (L)

Division of Pediatric Hematology, Oncology, and Blood and Marrow Transplantation, Medical College of Wisconsin, Milwaukee, Wis.

Alfred Gillio (A)

Joseph M. Sanzani's Children's Hospital at Hackensack University Medical Center, Hackensack, NJ.

Ami J Shah (AJ)

Division of Pediatric Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Stanford School of Medicine, Palo Alto, Calif.

Alan P Knutsen (AP)

Division of Pediatric Allergy & Immunology, Saint Louis University, St Louis, Mo.

Jeffrey P Andolina (JP)

Department of Pediatrics, Golisano Children's Hospital, University of Rochester, Rochester, NY.

Avni Y Joshi (AY)

Division of Pediatric Allergy and Immunology, Mayo Clinic Childrens Center, Rochester, Minn.

Paul Szabolcs (P)

Division of Blood and Marrow Transplantation and Cellular Therapies, University of Pittsburgh School of Medicine, Pittsburgh, Pa.

Malika Kapadia (M)

Division of Pediatric Oncology, Dana Farber/Boston Children's Cancer and Blood Disorders Center, Department of Pediatrics, Harvard University Medical School, Boston, Mass.

Caridad A Martinez (CA)

Hematology/Oncology/BMT, Texas Children's Hospital, Baylor College of Medicine, Houston, Tex.

Roberta E Parrot (RE)

Division of Pediatric Allergy and Immunology, Duke University Medical Center, Durham, NC.

Kathleen E Sullivan (KE)

Department 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 Prockop (SE)

Division of Pediatric Oncology, Dana Farber/Boston Children's Cancer and Blood Disorders Center, Department of Pediatrics, Harvard University Medical School, Boston, Mass.

Roshini S Abraham (RS)

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, Ohio.

Monica S Thakar (MS)

Clinical Research Division, Fred Hutchinson Cancer Research Center, Department of Pediatrics, University of Washington, Seattle, Wash.

Jennifer W Leiding (JW)

Division of Allergy and Immunology, Department of Pediatrics, Johns Hopkins University, Baltimore, Md.

Donald B Kohn (DB)

Department 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 Pulsipher (MA)

Division of Pediatric Hematology and Oncology, Intermountain Primary Childrens Hospital, Huntsman Cancer Institute at the University of Utah, Salt Lake City, Utah.

Linda M Griffith (LM)

Division of Allergy Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

Luigi D Notarangelo (LD)

Division of Allergy Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

Jennifer M Puck (JM)

Division of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, Calif.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › The diagnosis of severe combined...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The diagnosis of severe combined...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › The diagnosis of severe combined...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › Immunodéficience combinée grave › The diagnosis of severe combined...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › The diagnosis of severe combined...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études prospectives › The diagnosis of severe combined...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Protéines à homéodomaine › The diagnosis of severe combined...