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Retraction. Neutrophil elastase mutations in severe congenital neutropenia patients of the original Kostmann family.

Severe congenital neutropenia (SCN), or Kostmann syndrome, was originally reported as an autosomal recessive disease of neutrophil production and recurrent bacterial infections. Heterozygous mutations in the neutrophil elastase (NE) gene have previously been identified in patients with sporadic or autosomal dominant SCN. Here we present cellular and molecular studies of all 4 surviving affected members of the original ”Kostmann family” and their healthy parents and siblings. One of the patients had no mutation in the NE gene. Three other patients had one silent NE mutation that was also present in at least one of the healthy parents. Two of these 3 patients also displayed different heterozygous substitution mutations in the NE gene that were not inherited from parents. Sequencing analysis of genomic DNA from skin fibroblasts revealed an NE mutation in one of these patients, whereas no mutation was observed in the other patient. Expression of mutant NE cDNAs identified in these SCN patients, but not of normal NE, resulted in accelerated apoptosis of human promyelocytic HL-60 cells. Subcellular localization studies of NE in conjunction with molecular modeling of NE tertiary structure suggest that these substitution mutations might affect the substrate specificity of the enzyme. These data imply that NE mutations may contribute to the phenotype in some of the patients in this study and suggest that mutations in other genes may cause autosomal recessive SCN. Additional genetic studies are thus needed to further elucidate the cause of SCN in the original “Kostmann family”.