Primary immunodeficiency disorders || Public Health Genomics Knowledge Base (v1.2) || Primary immunodeficiency disorders

Public Health Genomics Knowledge Base (v1.2)



Last Updated: Nov 18, 2015

• A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.
  Nourizadeh Maryam, et al. Iranian journal of allergy, asthma, and immunology 2015 8 (4) 457-61
• 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
• 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
• Primary Immunodeficiencies with Elevated IgE.
  Mogensen Trine H et al. Int. Rev. Immunol. 2015 May 13.
• Newborn screening: Saving Lives for 50 Years 
• Newborn Screening: Severe Combined Immunodeficiency (SCID) 
• Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.
  Schimke Lena F, et al. The Journal of allergy and clinical immunology 2010 9 (3) 611-7.e1
• The loss of the CD16 B73.1/Leu11c epitope occurring in some primary immunodeficiency diseases is not associated with the FcgammaRIIIa-48L/R/H polymorphism.
  Lenart Marzena, et al. International journal of molecular medicine 2010 9 (3) 435-42

• CDC Information (2)
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• Human (1)
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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