title: A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency.
abstract: We present a boy with hyper-IgM syndrome with a previously not reported mutation in the CD40 ligand gene. He also had a concomitant natural killer (NK) cell deficiency. He had no CD56+ or CD16+ cells and no NK activity as determined in 4 h chromium release cytotoxicity assay. After 5 days in culture with IL-2-containing medium, however, his peripheral blood mononuclear cells lysed both NK-sensitive and NK-resistant targets, showing that he had lymphokine-activated killer cell precursors in the circulation. Due to the associated neutropenia, he was treated with granulocyte colony-stimulating factor (G-CSF) and responded well. In the same period we observed a transient increase in the number of NK cells. Isolated NK cell deficiencies are extremely rare. We suggest that the defect in our patient is part of the hyper-IgM syndrome, probably representing the phenotype of the new mutation described. Thus, it is possible that both the neutropenia and the NK cell deficiency are due to lack of growth-promoting signals normally delivered by the CD40 ligand.
authors.affiliation: Institute of Immunology and Rheumatology, National Hospital, Oslo, Norway.
authors.forename: B
authors.initials: B
authors.lastname: Ostenstad
authors.forename: S
authors.initials: S
authors.lastname: Giliani
authors.forename: O J
authors.initials: OJ
authors.lastname: Mellbye
authors.forename: B R
authors.initials: BR
authors.lastname: Nilsen
authors.forename: T
authors.initials: T
authors.lastname: Abrahamsen
mesh_terms: D019013:CD40 Antigens / Q000235:genetics; D003602:Cytotoxicity, Immunologic; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007075:Immunoglobulin M; D007223:Infant; D007694:Killer Cells, Natural / Q000502:physiology; D008297:Male; D009154:Mutation; D010641:Phenotype; D013601:T-Lymphocytes / Q000276:immunology; D014960:X Chromosome
chemical_list: D019013:CD40 Antigens; D007075:Immunoglobulin M