Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II).
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Jawahar S, Moody C, Chan M, Finberg R, Geha R, Chatila T
Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II).
Clin Exp Immunol. 1996 Mar;103(3):408-13.
- PubMed ID
- 8608639 [ View in PubMed]
- 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 (Fc gamma RIIIA 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 Leu(66) to His(66) 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.