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- Title
A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency.
- Authors
Østenstad, B.; Giliani, S.; Mellbye, O. J.; Nilsen, B. R.; Abrahamsen, T.
- 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-continuing 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, be was treated with granulocyte colonystimulating 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 lo lack of growth-promoting signals normally delivered by the CD40 ligand.
- Subjects
IMMUNOGLOBULIN M; IMMUNODEFICIENCY; KILLER cells; CD antigens; GRANULOCYTE-colony stimulating factor; NEUTROPENIA; CELLULAR immunity
- Publication
Clinical & Experimental Immunology, 1997, Vol 107, Issue 2, p230
- ISSN
0009-9104
- Publication type
Article
- DOI
10.1111/j.1365-2249.1997.284-ce1174.x