Specific protease deficiency in polymorphonuclear leukocytes of Chediak- Higashi syndrome and beige mice

Peripheral blood leukocytes of three patients with Chédiak-Higashi syndrome (CHS) contained very low or undetectable levels of elastase, the major neutral protease in these cells. Likewise, peritoneal exudate leukocytes of beige mice (the murine counterpart of CHS) contained correspondingly reduced levels of their major neutral protease, a serine enzyme of mol wt 27,000. The elastase deficiency in CHS polymorphonuclear leukocytes might account in part for the high incidence of infections in these patients.