title: Patterns of X chromosome inactivation in haematopoietic cells of female carriers of X linked severe combined immunodeficiency.
abstract: We evaluated the use of methylation analysis at the DXS255 locus as a method for carrier detection in X-linked severe combined immunodeficiency (XSCID). We also investigated the variations of X inactivation patterns in several haematopoietic cell lineages of XSCID carriers, both within and between XSCID pedigrees.
authors.affiliation: Department of Immunohaematology, University Hospital, Leiden, The Netherlands.
authors.forename: R W
authors.initials: RW
authors.lastname: Hendriks
authors.forename: M E
authors.initials: ME
authors.lastname: Kraakman
authors.forename: R K
authors.initials: RK
authors.lastname: Schuurman
mesh_terms: D001402:B-Lymphocytes / Q000737:chemistry; D015226:Dinucleoside Phosphates / Q000737:chemistry / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006098:Granulocytes / Q000737:chemistry; D006413:Hematopoietic System / Q000737:chemistry / Q000166:cytology; D006801:Humans; D008297:Male; D008745:Methylation; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D013601:T-Lymphocytes / Q000737:chemistry; D014960:X Chromosome
chemical_list: D015226:Dinucleoside Phosphates; C015772:CpG dinucleotide