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Clinical and Experimental Immunology logoLink to Clinical and Experimental Immunology
. 1997 Feb;107(2):230–234. doi: 10.1111/j.1365-2249.1997.284-ce1174.x

A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency

B ØSTENSTAD *, S GILIANI *, O J MELLBYE *, B R NILSEN , T ABRAHAMSEN
PMCID: PMC1904570  PMID: 9030857

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.

Keywords: Immunodeficiency, CD40 ligand, cytotoxicity, G-CSF, LAK cells

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