title: Is it necessary to identify molecular defects in primary immunodeficiency disease?
abstract: The identification of the molecular bases of more than 130 primary immunodeficiency diseases has prompted the use of mutation analysis in the diagnostic approach to these patients. Here we discuss the importance of and the limitations associated with molecular diagnosis of these disorders and emphasize the need that mutation analysis be accompanied by appropriate evidence that the identified genetic defect has pathologic consequences on RNA/protein expression and function.
authors.affiliation: Division of Immunology, Children's Hospital, Harvard Medical School, Boston, MA, USA.
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Ricardo
authors.initials: R
authors.lastname: Sorensen
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods / Q000639:trends; D005786:Gene Expression Regulation / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D014176:Protein Biosynthesis / Q000235:genetics; D012313:RNA / Q000096:biosynthesis*
chemical_list: D012313:RNA