Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts
| Autor: | Jaime E. Hale, John L. Sullivan, Jolan E. Walter, Inderneel Sahai, Ellen R. Cooper, Craig D. Platt, Sara Barmettler, H. Cody Meissner, Anne Marie Comeau, Jocelyn R. Farmer, Alicia M. Johnston, Alfred DeMaria, Nancy Yang, Roger B. Eaton, Sung-Yun Pai, Paul E. Hesterberg, Donna Fisher, Francisco A. Bonilla, Beverly N. Hay, Mark S. Pasternack, Luigi D. Notarangelo |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty Neonatal intensive care unit Genetic enhancement Population Receptors Antigen T-Cell Article 03 medical and health sciences Combined immunodeficiencies 0302 clinical medicine Neonatal Screening Immunology and Allergy Medicine Humans 030212 general & internal medicine education education.field_of_study Severe combined immunodeficiency Newborn screening business.industry T-cell receptor excision circles Incidence (epidemiology) Hematopoietic Stem Cell Transplantation Infant Newborn Infant medicine.disease 030228 respiratory system Massachusetts Severe Combined Immunodeficiency business Infant Premature |
| Zdroj: | J Allergy Clin Immunol Pract |
| Popis: | Background Massachusetts began newborn screening (NBS) for severe combined immunodeficiency (SCID) using measurement of T-cell receptor excision circles (TRECs) from dried blood spots. Objective We describe developments and outcomes from the first 10 years of this program (February 1, 2009, to January 31, 2019). Methods TREC values, diagnostic, and outcome data from all patients screened for SCID were evaluated. Results NBS of 720,038 infants prompted immunologic evaluation of 237 (0.03%). Of 237, 9 were diagnosed with SCID/leaky SCID (4% of referrals vs 0.001% general population). Another 7 were diagnosed with other combined immunodeficiencies, and 3 with athymia. SCID/leaky SCID incidence was approximately 1 in 80,000, whereas approximately 1 in 51,000 had severe T-cell lymphopenia for which definitive treatment was indicated. All patients with SCID/leaky SCID underwent hematopoietic cell transplant or gene therapy with 100% survival. One patient with athymia underwent successful thymus transplant. No known cases of SCID were missed. Compared with outcomes from the 10 years before SCID NBS, survival trended higher (9 of 9 vs 4 of 7), likely due to a lower rate of infection before treatment. Conclusions Our data support a single NBS testing-and-referral algorithm for all gestational ages. Despite lower median TREC values in premature infants, the majority for all ages are well above the TREC cutoff and the algorithm, which selects urgent (undetectable TREC) and repeatedly abnormal TREC values, minimizes referral. We also found that low naive T-cell percentage is associated with a higher risk of SCID/CID, demonstrating the utility of memory/naive T-cell phenotyping as part of follow-up flow cytometry. |
| Databáze: | OpenAIRE |
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