Severe Combined Immunodeficiency
Last Posted: Apr 27, 2023
- Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.
Jovanka R King et al. Int J Neonatal Screen 9(2)
- Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.
Sikha Singh et al. Int J Neonatal Screen 9(2)
- Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay.
Elizabeth Reynolds et al. J Dev Behav Pediatr
- Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
S Singh et al, IJNS, April 2023
- Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening.
Melissa Raspa et al. European journal of human genetics : EJHG 2023 1-7
- Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Tomokazu Kimizu et al. Brain & development 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
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Rare Disease 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 rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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:Jun 09, 2023
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