Discovery of single-gene inborn errors of immunity by next generation sequencing - PubMed (original) (raw)

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Discovery of single-gene inborn errors of immunity by next generation sequencing

Mary Ellen Conley et al. Curr Opin Immunol. 2014 Oct.

Abstract

Many patients with clinical and laboratory evidence of primary immunodeficiency do not have a gene specific diagnosis. The use of next generation sequencing, particularly whole exome sequencing, has given us an extraordinarily powerful tool to identify the disease-causing genes in some of these patients. At least 34 new gene defects have been identified in the last 4 years. These findings document the striking heterogeneity of the phenotype in patients with mutations in the same gene. In some cases this can be attributed to loss-of-function mutations in some patients, but gain-of-function mutations in others. In addition, the surprisingly high frequency of autosomal dominant immunodeficiencies with variable penetrance, and de novo mutations in disorders with a severe phenotype has been unmasked.

Copyright © 2014 Elsevier Ltd. All rights reserved.

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