Severe Combined Immunodeficiency
What's New
Last Posted: Mar 16, 2023
- A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
Rafael Tesorero et al. PloS one 2023 18(3) e0283024 - Gene Therapy for Artemis-Deficient SCID
SY Pai, NEJM, December 22, 2022 - Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.
Inoue Kento et al. Journal of clinical immunology 2022 - Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.
Boyarchuk Oksana et al. Frontiers in immunology 2022 13999664 - The Euroflow PID Orientation Tube in the diagnostic workup of primary immunodeficiency: Daily practice performance in a tertiary university hospital.
Neirinck Jana et al. Frontiers in immunology 2022 13937738 - TRECs/KRECs: Beyond the Diagnosis of Severe Combined Immunodeficiency.
Ramos Barbara Cristina et al. Journal of clinical immunology 2022 - Newborn Tandem Mass Spectroscopy Screening for Adenosine Deaminase Deficiency-First Two Years' Experience.
Hartog Nicholas et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022 - Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3) - Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3) - Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan Koon-Wing et al. Frontiers in immunology 2022 13883446
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About PI PHGKB
Primary Immune Deficiency Diseases (PI) PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to primary immune deficiency diseases....more
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 22, 2023
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