Primary immunodeficiency

Last Posted: Dec-02-2016 8AM

 Primary Immunodeficiency expanded expanded

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

More information on this topic

Last Updated: Nov 30, 2016

• Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.
  Gallo Vera et al. Frontiers in immunology 2016 7466
• 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
• 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
• Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
  Picard Capucine, Al-Herz Waleed, Bousfiha Aziz, Casanova Jean-Laurent, Chatila Talal, Conley Mary Ellen, Cunningham-Rundles Charlotte, Etzioni Amos, Holland Steven M, Klein Christoph, Nonoyama Shigeaki, Ochs Hans D, Oksenhendler Eric, Puck Jennifer M, Sullivan Kathleen E, Tang Mimi L K, Franco Jose Luis, Gaspar H Bobby.Journal of clinical immunology 2015 Oct
• Screening for long-term poliovirus excretion among children with primary immunodeficiency disorders: preparation for the polio posteradication era in Bangladesh.
  Sazzad Hossain M S et al. J. Infect. Dis. 2014 Nov 1. 210 Suppl 1S373-9
• Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
  Published on 2014 by International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
• Prevalence and morbidity of primary immunodeficiency diseases, United States 2001-2007.
  Kobrynski Lisa et al. J. Clin. Immunol. 2014 Nov 34(8) 954-61
• Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-y immunity.
  Bustamante Jacinta et al. Semin. Immunol. 2014 Dec (6) 454-70
• A Clinical and Laboratory Approach to the Evaluation of Innate Immunity in Pediatric CVID Patients.
  Kutukculer Necil et al. Front Immunol 2015 145
• Comparison of diagnostic criteria for common variable immunodeficiency disorder.
  Ameratunga Rohan et al. Front Immunol 2014 415
• Diagnosing primary immunodeficiency: a practical approach for the non-immunologist.
  Lehman Heather et al. Curr Med Res Opin 2015 Apr (4) 697-706
• Gene therapy for primary immunodeficiencies.
  Fischer A et al. Clin. Genet. 2015 Feb 24.
• Important differences in the diagnostic spectrum of primary immunodeficiency in adults versus children.
  Abolhassani Hassan et al. Expert Rev Clin Immunol 2015 Feb (2) 289-302
• Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.
  Boisson-Dupuis Stéphanie et al. Immunol. Rev. 2015 Mar (1) 103-20
• Novel primary immunodeficiency candidate genes predicted by the human gene connectome.
  Itan Yuval et al. Front Immunol 2015 142

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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