Severe combined immunodeficiency | Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

Last Posted: Dec-08-2016 10AM

 Severe Combined Immunodeficiency expanded expanded

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).
Tagliaferri Laura et al. Clinical immunology (Orlando, Fla.) 2016 Dec

Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening.
de Pagter Anne P J et al. European journal of pediatrics 2015 Sep 174(9) 1183-8

Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
S Grosse, Blog post, March 15, 2016 

More information on this topic

Last Updated: Dec 07, 2016

• Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).
  Tagliaferri Laura et al. Clinical immunology (Orlando, Fla.) 2016 Dec
• Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening.
  de Pagter Anne P J et al. European journal of pediatrics 2015 Sep 174(9) 1183-8
• Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
  S Grosse, Blog post, March 15, 2016
• Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand?
  Cavazzana Marina et al. Human gene therapy 2016 Feb (2) 108-16
• Newborn screening for severe combined immune deficiency (technical and political aspects).
  Kobrynski Lisa et al. Current opinion in allergy and clinical immunology 2015 Dec (6) 539-46
• Newborn Metabolic Screening Program
  Disease: NA; Type: Program; State: South Dakota
• Severe combined immunodeficiencies and related disorders
  A Fischer et al. Nature Reviews Disease Primers, November 2015
• Severe Combined Immunodeficiency Disorders.
  Chinn Ivan K et al. Immunology and allergy clinics of North America 2015 Nov (4) 671-94
• Severe combined immunodeficiency-an update.
  Cirillo Emilia et al. Annals of the New York Academy of Sciences 2015 Jul
• [New recommendations for the Dutch neonatal screening programmeA report from the Health Council of the Netherlands].
  Published on 2015 by Health Council of the Netherlands
• Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
  Bayer D K et al. Clin. Exp. Immunol. 2014 Dec 178(3) 459-69
• Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
  Okada Satoshi, Markle Janet G, Deenick Elissa K, Mele Federico, Averbuch Dina, Lagos Macarena, Alzahrani Mohammed, Al-Muhsen Saleh, Halwani Rabih, Ma Cindy S, Wong Natalie, Soudais Claire, Henderson Lauren A, Marzouqa Hiyam, Shamma Jamal, Gonzalez Marcela, Martinez-Barricarte Rubén, Okada Chizuru, Avery Danielle T, Latorre Daniela, Deswarte Caroline, Jabot-Hanin Fabienne, Torrado Egidio, Fountain Jeffrey, Belkadi Aziz, Itan Yuval, Boisson Bertrand, Migaud Mélanie, Arlehamn Cecilia S Lindestam, Sette Alessandro, Breton Sylvain, McCluskey James, Rossjohn Jamie, de Villartay Jean-Pierre, Moshous Despina, Hambleton Sophie, Latour Sylvain, Arkwright Peter D, Picard Capucine, Lantz Olivier, Engelhard Dan, Kobayashi Masao, Abel Laurent, Cooper Andrea M, Notarangelo Luigi D, Boisson-Dupuis Stéphanie, Puel Anne, Sallusto Federica, Bustamante Jacinta, Tangye Stuart G, Casanova Jean-Laurent.Science 2015 Jul 9.
• Actionable diagnosis of neuroleptospirosis by next-generation sequencing.
  Wilson Michael R et al. N. Engl. J. Med. 2014 Jun 19. 370(25) 2408-17
• Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.
  Taylor Jennifer L et al. Clin. Chem. 2015 Feb 61(2) 412-9
• Universal state newborn screening programs can reduce health disparities.
  Brosco Jeffrey P et al. JAMA Pediatr 2015 Jan 169(1) 7-8

• CDC Information (2)
• CDC-Authored Pub (4)

• Human (10)
• Pathogen (3)

• Human (10)
• Pathogen (0)

• Human (15)
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• Guidelines (1)
• Tier Table (0)
• Synthesis (4)

• Huamn (3)
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Relevant Resources

• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB