Natural Killer Cell Activity in a Patient with Chédiak-Higashi Syndrome Submitted to Bone Marrow Transplantation

Abstract

ChCdiak-Higashi syndrome (CHS) is a rare autosomal-recessive dis ease that is characterized primarily by partial oculocutaneous albinism, frequent pyogenic infections, and characteristic giant lysosomal granules present in most granule-containing cells. The immunologic relevance of this disease is the selective impairment in natural killer (NK) cell function [ 1-41. Previous studies have suggested that this defect may predispose to the subsequent development of lymphoproliferative disorders [3, 41. Natural killer cells are the first class of cells to appear after bone marrow transplantation (BMT) [5,6], and there is one report that BMT can reverse the defect of these cells in the CHS [7]. Our report confirms these results by studying the behavior of these cells before and after BMT in a patient with CHS.