X-linked chronic granulomatous disease in an adult woman. Evidence for a cell selection favoring neutrophils expressing the mutant allele

M. Cazzola, F. Sacchi, A. Pagani, M. Marconi, M. M. Ciriello, A. Fietta, A. Clivio, E. Ascari

Research output: Contribution to journalArticlepeer-review

Abstract

A 50-year-old woman had a history of repeated infections since infancy. Her neutrophils showed a severe defect in bactericidal activity and nitroblue tetrazolium (NBT) reduction, as is typically found in males with the classic chronic granulomatous disease (CGD). On the other hand, the patient's monocytes killed about 50% of the bacteria eliminated by normal monocytes, and by NBT reduction showed two distinct populations with an even distribution of normal and defective cells, as is typically found in females heterozygous for CGD. The patient had 2 sons who died from sepsis at the ages of 2 and 4, respectively. Two daughters were clinically normal; neutrophil function tests showed normal results in one and findings typical for CGD heterozygous females in the other. Thus a typical X-linked CGD was present in this family. A cell selection favoring neutrophils expressing the mutant allele associated with a normal mosaic within monocytes, apparently explained the mild CGD syndrome in the proband.

Original languageEnglish
Pages (from-to)291-295
Number of pages5
JournalHaematologica
Volume70
Issue number4
Publication statusPublished - 1985

ASJC Scopus subject areas

  • Hematology

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