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1,053 results
  • Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients. [Journal Article]
  • JCJ Clin Immunol 2018; 38(8):898-916
  • Kulkarni M, Hule G, … Madkaikar M
  • CONCLUSIONS: Substantial number of the patients lack NCF1 gene on both the alleles. This is often missed by advanced molecular techniques like Sanger sequencing and NGS due to the presence of pseudogenes and requires a simple Genescan method for confirmation. Thus, the diagnostic approach may depend on the prevalence of affected genes in respective population. This study identifies potential gene targets with the help of flow cytometric analysis of NADPH oxidase components to design an algorithm for diagnosis of CGD in India. In Indian population, the Genescan method should be preferred as the primary molecular test to rule out NCF1 gene mutations prior to Sanger sequencing and NGS.
  • StatPearls: Immunodeficiency [BOOK]
  • BOOKStatPearls Publishing: Treasure Island (FL)
  • Justiz Vaillant Angel A. AA Qurie Ahmad A Creighton University School of medicine
  • Immunodeficiency results from a failure or absence of elements of the immune system including lymphocytes, phagocytes and complement system. These immunodeficiencies can be either primary such as Bru…
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