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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Primary Immune Deficiency Diseases
Last data update: Apr 18, 2024
. (Total: 63623 Documents since 2012)
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Severe Combined Immunodeficiency[original query]>>Reviews/Commentaries[Product Type]
Efficient screening strategies for severe combined immunodeficiencies in newborns.
Maartje Blom et al. Expert Rev Mol Diagn 2023 1-11
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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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TRECs/KRECs: Beyond the Diagnosis of Severe Combined Immunodeficiency.
Ramos Barbara Cristina et al. Journal of clinical immunology 2022
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Future Perspectives of Newborn Screening for Inborn Errors of Immunity.
Blom Maartje et al. International journal of neonatal screening 2021 7(4)
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Establishing Newborn Screening for SCID in the USA; Experience in California.
Puck Jennifer M et al. International journal of neonatal screening 2021 7(4)
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Genetic screening techniques and diseases for neonatal genetic diseases.
Han Lianshu et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021 50(4) 429-435
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Evaluation of newborn screening for severe combined immunodeficiency (SCID).
Nightingale Rebecca et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2021 71(711) 456-457
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Gene therapy helps children with immunodeficiency
O'Leary, Nature Medicine, June 10, 2021
Newborn screening for severe combined immunodeficiency: clinical and cost-effectiveness approaches.
Boyarchuk Oksana et al. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2021 49(289) 80-83
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Gene Therapy for Monogenic Inherited Disorders.
Kirschner Janbernd et al. Deutsches Arzteblatt international 2021 117(51-52) 878-885
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An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity.
King Jovanka R et al. The Journal of allergy and clinical immunology 2021 Feb 147(2) 428-438
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The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices.
Sheller Ruthanne et al. Frontiers in immunology 2020 11577853
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Newborn Screening: Current Status in Alberta, Canada.
De Souza Andy et al. International journal of neonatal screening 2019 Dec 5(4) 37
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Review: Why screen for severe combined immunodeficiency disease?
Thomas C et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Sep
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Latin American consensus on the supportive management of patients with severe combined immunodeficiency.
Bustamante Ogando Juan Carlos et al. The Journal of allergy and clinical immunology 2019 144(4) 897-905
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[Severe combined immunodeficiency: The time for newborn screening has come].
Hoyos Bachiloglu Rodrigo et al. Revista chilena de pediatria 2019 Dec 90(6) 581-588
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Genetics of severe combined immunodeficiency.
Kumrah Rajni et al. Genes & diseases 2020 Mar 7(1) 52-61
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The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time.
Quinn Jessica et al. Immunologic research 2020 Mar
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Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
Elsink Kim et al. Clinical immunology (Orlando, Fla.) 2020 Feb 108359
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David Vetter was ‘the boy in the bubble.’ His short life provided insights into how the rare disorder SCID works.
E Blakemore, Washington Post, January 2020
[Advances in newborn screening and immune system reconstitution of severe combined immunodeficiency].
Huang Shumin et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2019 Jun 48(4) 351-357
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Where are you in your SCID journey?
Immune Deficiency Foundation, SCID Compass, 2019
Universal Newborn Screening for Severe Combined Immunodeficiency (SCID).
van der Burg Mirjam et al. Frontiers in pediatrics 2019 7373
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What to Do with an Abnormal Newborn Screen for Severe Combined Immune Deficiency.
Chong Hey J et al. Immunology and allergy clinics of North America 2019 Nov 39(4) 535-546
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Advances and highlights in primary immunodeficiencies in 2017.
Chinen Javier et al. The Journal of allergy and clinical immunology 2018 142(4) 1041-1051
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Nonsevere combined immunodeficiency T-cell lymphopenia identified through newborn screening.
Patrawala Meera et al. Current opinion in allergy and clinical immunology 2019 Sep
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Newborn Screening for Severe Combined Immunodeficiency.
Taki Mohammed et al. Pediatric clinics of North America 2019 Oct 66(5) 913-923
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Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.
Castagnoli Riccardo et al. Frontiers in pediatrics 2019 7295
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Gene therapy for primary immunodeficiency.
Booth Claire et al. Human molecular genetics 2019 Jul
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Severe Combined Immunodeficiency: A Review for Neonatal Clinicians.
Michniacki Thomas F et al. NeoReviews 2019 Jun 20(6) e326-e335
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 18, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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