Severe Combined Immunodeficiency
What's New
Last Posted: May 02, 2024
- Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress.
Leire Solis et al. Int J Neonatal Screen 2024 10(2) - EXPANDED NEWBORN SCREENING FOR INBORN ERRORS OF IMMUNITY: THE EXPERIENCE OF TUSCANY.
Silvia Ricci et al. J Allergy Clin Immunol Pract 2024 - Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Andrey V Marakhonov et al. J Clin Immunol 2024 44(4) 93 - Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.
Evey Howley et al. J Clin Immunol 2024 44(3) 79 - Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population
A Gaviglio et al, IJNS, December 2023 - Efficient screening strategies for severe combined immunodeficiencies in newborns.
Maartje Blom et al. Expert Rev Mol Diagn 2023 1-11 - Screening newborns for deadly immune disorder saves lives
NIH, July 2023 - Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Monica S Thakar et al. Lancet 2023 - Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience.
Sevim Busra Korkmaz et al. Int J Immunogenet 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)
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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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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, 2024
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