Primary Immunodeficiency and Newborn Screening

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Last Posted: Aug 10, 2017

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• Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future  
  J King et al, International Journal of Neonatal Screening 2017, 3(3), 19
• Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
  SD Grosse, CDC Blog Post, 2016
• Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.  
  Luk Anderson Dik Wai et al. Frontiers in immunology 2017 8808
• Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.  
  Stray-Pedersen Asbjørg et al. The Journal of allergy and clinical immunology 2017 Jan 139(1) 232-245
• Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.  
  Pavey Ashleigh R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun
• An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program.  
  Blom Maartje et al. Clinical immunology (Orlando, Fla.) 2017 May
• Modeling strategy to identify patients with primary immunodeficiency utilizing risk management and outcome measurement.  
  Modell Vicki et al. Immunologic research 2017 Feb
• Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.  
  Woon See-Tarn et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2016 1265
• Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.  
  Barbaro Michela et al. Journal of clinical immunology 2016 Nov
• Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.  
  Gallo Vera et al. Frontiers in immunology 2016 7466
• 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
• Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India.  
  Madkaikar Manisha et al. Indian journal of pediatrics 2016 Feb
• Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.  
  Al-Mousa Hamoud et al. The Journal of allergy and clinical immunology 2016 Feb
• The effects of prenatal genetic analysis on fetuses born to carrier mothers with primary immunodeficiency diseases.  
  Lee Wen-I et al. Annals of medicine 2016 Feb 1-8
• Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing.  
  Joseph Galen et al. Pediatrics 2016 Jan 137 Suppl 1S36-46
• Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.  
  Picard Capucine et al. Journal of clinical immunology 2015 Oct

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