title: [Identification of mutations that were responsible for primary immunodeficiency diseases].
abstract: The genes responsible for many X-linked and autosomal recessive primary immunodeficiency diseases have been identified during the past two years. Now we can diagnose more than a dozen primary immunodeficiency diseases by genetic methods as well as immunological ones. We describe here two patients with leukocyte adhesion deficiency (LAD) and with X-linked agammaglobulinemia (XLA) the diagnoses of which were confirmed by genetic analysis. A patient with LAD showed a missense mutation of the CD18 gene from C to T at nucleotide position 605 resulting in a proline178-->leucine substitution. The mutation of the other allele has not yet been analyzed, because few CD18 mRNAs were translated from the mutated DNA. Another patient with XLA had a missense mutation of Btk gene at position 1204 of C to T resulting in a change of leucine358-->phenylalanine. In view of the mutation of the Sac I restriction site from GAGCTC to GAGTTC we can easily differentiate patients and the carrier from normal persons by the amplification of genomic Btk DNA. Through these studies unknown functions of these genes will be clarified in the near future.
authors.affiliation: Department of Pediatric Oncology, Tohoku University, Sendai.
authors.forename: S
authors.initials: S
authors.lastname: Tsuchiya
authors.forename: Y
authors.initials: Y
authors.lastname: Ohashi
authors.forename: T
authors.initials: T
authors.lastname: Konno
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics; D001483:Base Sequence; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics*; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D014960:X Chromosome