The Immunology Service has developed a mutation analysis program for primary immunodeficiency focusing on disorders seen at the NIH as part of the NIAID initiative in primary immunodeficiency disorders. This currently involves conventional Sanger sequencing of more than 40 different genes associated with these disorders and is also examining an alternative platform for initial screening of mutations in these genes to focus the Sanger sequencing to a specific gene and site.

Julie Niemela
niemela@cc.nih.gov
301.496.5668