Severe Combined Immunodeficiency
Last Posted: Dec 03, 2020
- Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices.
Knight Vijaya et al. International journal of neonatal screening 2020 Jun 6(3)
- 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
- A Cost-Effectiveness Analysis of Newborn Screening for Severe Combined Immunodeficiency in the UK.
Bessey Alice et al. International journal of neonatal screening 2019 Sep 5(3) 28
- Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada.
Thompson J Robert et al. International journal of neonatal screening 2018 Jun 4(2) 19
- Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program.
Blom Maartje et al. International journal of neonatal screening 2018 Dec 4(4) 40
- Newborn Screening: Current Status in Alberta, Canada.
De Souza Andy et al. International journal of neonatal screening 2019 Dec 5(4) 37
- Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.
Blom Maartje et al. Journal of clinical immunology 2020 Oct
- 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
- The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan.
Qureshi Sonia et al. The World Allergy Organization journal 2020 Jul 13(7) 100133
- Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand Janne et al. Frontiers in immunology 2020 111417
- 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
- [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
- Genetics of severe combined immunodeficiency.
Kumrah Rajni et al. Genes & diseases 2020 Mar 7(1) 52-61
- 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
- Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
Elsink Kim et al. Clinical immunology (Orlando, Fla.) 2020 Feb 108359
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 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
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