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

Autor: 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., Haddad E; Department of Pediatrics, University of Montreal, CHU Sainte-Justine, Montreal, Quebec, Canada., 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., Dunn E; Division of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, Calif., Cowan MJ; Division of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, Calif., Pai SY; Immune Deficiency Cellular Therapy Program, Center for Cancer Research, National Cancer Institute, Bethesda, Md., Kapoor N; Hematology, Oncology and TCT, Children's Hospital Los Angeles, Los Angeles, Calif., Satter LF; Pediatric Immunology Allergy and Retrovirology, Baylor College of Medicine, Houston, Tex., Buckley RH; Division of Pediatric Allergy and Immunology, Duke University Medical Center, Durham, NC., O'Reilly RJ; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, Memorial Sloan Kettering, New York, NY., 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., Bednarski JJ; Division of Pediatric Hematology and Oncology, Washington University School of Medicine, St Louis, Mo., Williams O; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Ill., Rayes A; Division of Pediatric Hematology and Oncology, Intermountain Primary Childrens Hospital, Huntsman Cancer Institute at the University of Utah, Salt Lake City, Utah., Moore TB; Department of Pediatrics, UCLA David Geffen School of Medicine, Los Angeles, Calif., Ebens CL; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy, University of Minnesota, Minneapolis, Minn., Davila Saldana BJ; Division of Bone and Marrow Transplantation, Children's National Hospital, Washington, DC., Petrovic A; Division of Pediatric Immunology and Bone Marrow Transplantation, University of Washington, Seattle Children's Hospital, Seattle, Wash., Chellapandian D; Center for Cell and Gene Therapy for Non Malignant Conditions, Johns Hopkins All Children's Hospital, St Petersburg, Fla., Cuvelier GDE; Manitoba Blood and Marrow Transplant Program, CancerCare Manitoba, University of Manitoba, Winnipeg, Manitoba, Canada., Vander Lugt MT; Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, Mich., Caywood EH; Nemours Children's Health Delaware, Thomas Jefferson University, Wilmington, Del., Chandrakasan S; Bone Marrow Transplantation Program, Aflac Cancer and Blood Disorders Center, Department of Pediatrics, Emory University School of Medicine, Atlanta, Ga., Eissa H; Division of Pediatric Hematology-Oncology-BMT, University of Colorado, Aurora, Colo., Goldman FD; Division of Hematology/Oncology/BMT, Department of Pediatrics, University of Alabama, Birmingham, Ala., Shereck E; Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, Ore., Aquino VM; Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, University of Texas Southwestern Medical Center, Dallas, Tex., Desantes KB; Division of Pediatric Heme/Onc & Bone Marrow Transplant, University of Wisconsin School of Medicine, Madison, Wis., Madden LM; Pediatric Bone Marrow Transplant Program, Texas Transplant Institute, San Antonio, Tex., Miller HK; Phoenix Children's Hospital, Phoenix, Ariz., Yu L; Division of Pediatric Hematology-Oncology/HSCT, LSUHSC and Children's Hospital, New Orleans, La., Broglie L; Division of Pediatric Hematology, Oncology, and Blood and Marrow Transplantation, Medical College of Wisconsin, Milwaukee, Wis., Gillio A; Joseph M. Sanzani's Children's Hospital at Hackensack University Medical Center, Hackensack, NJ., Shah AJ; Division of Pediatric Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Stanford School of Medicine, Palo Alto, Calif., Knutsen AP; Division of Pediatric Allergy & Immunology, Saint Louis University, St Louis, Mo., Andolina JP; Department of Pediatrics, Golisano Children's Hospital, University of Rochester, Rochester, NY., Joshi AY; Division of Pediatric Allergy and Immunology, Mayo Clinic Childrens Center, Rochester, Minn., Szabolcs P; Division of Blood and Marrow Transplantation and Cellular Therapies, University of Pittsburgh School of Medicine, Pittsburgh, Pa., 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., Martinez CA; Hematology/Oncology/BMT, Texas Children's Hospital, Baylor College of Medicine, Houston, Tex., Parrot RE; Division of Pediatric Allergy and Immunology, Duke University Medical Center, Durham, NC., 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., 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., Abraham RS; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, Ohio., Thakar MS; Clinical Research Division, Fred Hutchinson Cancer Research Center, Department of Pediatrics, University of Washington, Seattle, Wash., Leiding JW; Division of Allergy and Immunology, Department of Pediatrics, Johns Hopkins University, Baltimore, Md., 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., Pulsipher MA; Division of Pediatric Hematology and Oncology, Intermountain Primary Childrens Hospital, Huntsman Cancer Institute at the University of Utah, Salt Lake City, Utah., Griffith LM; Division of Allergy Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md., Notarangelo LD; Division of Allergy Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md., Puck JM; Division of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco, San Francisco, Calif.
Jazyk: angličtina
Zdroj: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2023 Feb; Vol. 151 (2), pp. 547-555.e5. Date of Electronic Publication: 2022 Nov 28.
DOI: 10.1016/j.jaci.2022.10.021
Abstrakt: 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 9 /L) characterized typical SCID under the 2022 Definitions. Pathogenic variant(s) in SCID-associated genes was identified in 93% of patients, with 7 genes (IL2RG, RAG1, ADA, IL7R, DCLRE1C, JAK3, and RAG2) accounting for 89% of typical SCID. Three genotypes (RAG1, ADA, and RMRP) accounted for 57% of cases of leaky/atypical SCID; there were 13 other rare genotypes. Patients with leaky/atypical SCID were more likely to be diagnosed at more than age 1 year than those with typical SCID lacking maternal T cells: 20% versus 1% (P < .001). Although repeat testing proved important, an initial CD3 T-cell count of less than 0.05 × 10 9 /L differentiated cases of typical SCID lacking maternal cells from leaky/atypical SCID: 97% versus 7% (P < .001).
Conclusions: The PIDTC 2022 Definitions describe SCID and its subtypes more precisely than before, facilitating analyses of SCID characteristics and outcomes.
(Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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