title: Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males.
abstract: All males in two generations of a Hungarian family died of interstitial pneumonia. History and records suggested X-linked hyper-IgM syndrome (X-HIGM). DNA sequencing of a female carrier revealed a c. 654C->A transversion of the CD40L gene that predicts premature termination of CD40L synthesis. This report points to the importance of early carrier detection and genetic counseling in families with X-linked primary immunodeficiency diseases. We propose that the c.654C->A sequence variant may associate with severe X-HIGM phenotype.
authors.forename: Melinda
authors.initials: M
authors.lastname: Erdos
authors.forename: Krisztina
authors.initials: K
authors.lastname: Alapi
authors.forename: László
authors.initials: L
authors.lastname: Maródi
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D019013:CD40 Antigens / Q000096:biosynthesis; D002648:Child; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000175:diagnosis* / Q000235:genetics*; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012189:Retrospective Studies
chemical_list: D019013:CD40 Antigens