Abstract
A man aged 58, who developed chronic granulomatous ulceration of the perineum, was found to have a refractory macrocytic anæmia and a defect in bactericidal activity and chemotactic motility of polymorphonuclear leucocytes (P.M.N.S). Almost all his circulating P.M.N.S were excessively large and hypersegmented, and cytogenetic studies of the bone-marrow revealed a tetraploid cell line with a structural chromosome aberration. It is suggested that a unique somatic mutation in the bone-marrow led to the abnormal blood picture and to the defects in P.M.N. function. One of the genetic loci important in the bactericidal activity of P.M.N.S may be located in the presumptive chromosomal deletion.
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