title: Mosaicism in X-linked severe combined immunodeficiency.
abstract: We performed gamma c gene analysis of a boy with severe combined immunodeficiency whose brother died of the same condition. A base pair deletion in exon 6 was found, which was absent in his mother, indicating maternal mosaicism with important implications for genetic counseling and demonstrating the importance of mutation analysis in boys with severe combined immunodeficiency.
authors.affiliation: Department of Immunology/Allergy, Sydney Children's Hospital, Australia.
authors.forename: S S
authors.initials: SS
authors.lastname: Ting
authors.forename: J
authors.initials: J
authors.lastname: Ziegler
authors.forename: D
authors.initials: D
authors.lastname: Leigh
authors.forename: A
authors.initials: A
authors.lastname: Kemp
authors.forename: R
authors.initials: R
authors.lastname: Lindeman
mesh_terms: D015415:Biomarkers; D017931:DNA Primers / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics*; D012720:Severity of Illness Index; D014960:X Chromosome / Q000235:genetics*
chemical_list: D015415:Biomarkers; D017931:DNA Primers