Mutation analysis in primary immunodeficiency diseases: case studies.

ABSTRACT:

Purpose of review

The application of mutation analysis is becoming an integral part of the complete evaluation of patients with primary immunodeficiencies, and as such, clinicians caring for these patients must develop a better understanding of the utility and challenges of this important laboratory technology.

Recent findings

Genomic DNA sequencing is currently the standard approach used to characterize a possible gene mutation causing a specific primary immunodeficiency. There are clinical situations in which this approach is revealing of a genetic defect and other circumstances in which this generates a false-positive or false-negative result. One case study is presented that reviews a straightforward analysis that clarifies the genetic basis of a primary immunodeficiency

SUBMITTER: Hsu AP 

PROVIDER: S-EPMC2774237 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature