title: Genetic diagnosis of primary immune deficiencies.
abstract: Gene testing in primary immune deficiencies (PIDs) once was limited to expert academic laboratories, but now is easily available to physicians with a broad range of clinical expertise. Such testing can establish or confirm a suspected diagnosis and also may predict future disease risk in advance of clinical signs and symptoms, inform reproductive decision making, and guide clinicians in selecting the most appropriate therapeutic options. This article, based on the authors' experience and a review of the published literature, discusses some of the advances and challenges currently encountered in the clinical molecular genetic diagnosis of PIDs.
authors.affiliation: Correlagen Diagnostics, Inc., 307 Waverley Oaks Road, Suite 101, Waltham, MA 02452, USA.
authors.forename: Massimo
authors.initials: M
authors.lastname: Morra
authors.forename: Ute
authors.initials: U
authors.lastname: Geigenmuller
authors.forename: John
authors.initials: J
authors.lastname: Curran
authors.forename: Irene R
authors.initials: IR
authors.lastname: Rainville
authors.forename: Tim
authors.initials: T
authors.lastname: Brennan
authors.forename: Judd
authors.initials: J
authors.lastname: Curtis
authors.forename: Vienna
authors.initials: V
authors.lastname: Reichert
authors.forename: Hayk
authors.initials: H
authors.lastname: Hovhannisyan
authors.forename: Joseph
authors.initials: J
authors.lastname: Majzoub
authors.forename: David T
authors.initials: DT
authors.lastname: Miller
mesh_terms: D005796:Genes; D005820:Genetic Testing; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology; D009154:Mutation; D017422:Sequence Analysis, DNA