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. 1996 Mar;103(3):408–413. doi: 10.1111/j.1365-2249.1996.tb08295.x

Natural killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II)

S JAWAHAR *, C MOODY *, M CHAN *, R FINBERG *, R GEHA *, T CHATILA *
PMCID: PMC2200361  PMID: 8608639

Abstract

Susceptibility to herpes virus infections has been described in experimental animals depleted of NK cells and in patients with defective NK cell function. We have identified a child with recurrent infections, especially with herpes simplex virus, who had a decreased number of CD56+CD3− NK cells in circulation. Her NK cells expressed an altered form of the Fc receptor for IgG type IIIA (FcγRIIIA or CD16-II) which was not reactive with the anti-CD16-II MoAb B73.1. Sequence analysis revealed the patient to be homozygous for a T to A substitution at position 230 of CD16-II cDNA, predicting a Leu66 to His66 change in the first immunoglobulin domain of CD16-II at the B73.1 recognition site. Spontaneous NK cell activity of the patient's peripheral blood mononuclear cells (PBMC) was markedly decreased, while antibody-dependent cellular cytotoxicity (ADCC) was unaffected. These results suggest that this child suffers from a defect affecting the development and function of NK cells, resulting in NK cytopenia and clinically significant immunodeficiency. The role of the CD16-II mutant in the pathogenesis of the patient's NK cell deficiency is discussed.

Keywords: immunodeficiency, natural killer cells, Fc receptors, CD16, herpes viruses

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