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

Important note: Information in this article was accurate in 1996. The state of the art may have changed since the publication date.

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. Unique Identifier : AIDSLINE MED/96188952
Jawahar S; Moody C; Chan M; Finberg R; Geha R; Chatila T; Division of Immunology, The Children's Hospital, Boston, MA, USA.

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.

Keywords: Antibodies, Monoclonal Antibody-Dependent Cell Cytotoxicity/IMMUNOLOGY Base Sequence Case Report Child, Preschool Epitopes/IMMUNOLOGY Female Herpesviridae Infections/IMMUNOLOGY Human Immunologic Deficiency Syndromes/BLOOD/*IMMUNOLOGY Killer Cells, Natural/*IMMUNOLOGY Molecular Sequence Data Otitis Media/IMMUNOLOGY Phenotype Receptors, IgG/*IMMUNOLOGY Sinusitis/IMMUNOLOGY Support, Non-U.S. Gov't Support, U.S. Gov't, P.H.S. JOURNAL ARTICLE
960830
M9681214

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