An inherited defect in granulocyte function: impaired chemotaxis, phagocytosis and intracellular killing of microorganisms.
The neutrophil granulocytes of a 1-year-old boy with severe recurrent infections were found to have almost no chemotactic responsiveness, impaired phagocytosis and reduced intracellular killing of Candida albicans "in vitro". During the course of a febrile illness of unknown etiology which was accompanied by a leukemoid reaction, phagocytic activity became normal; the chemotactic response was also increased but still remained slightly subnormal. Family studies suggested that the defect was an inherited autosomal recessive one.
D002633:Chemotaxis; D006098:Granulocytes / Q000502:physiology; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010585:Phagocyte Bactericidal Dysfunction / Q000097:blood / Q000235:genetics* / Q000276:immunology; D010587:Phagocytosis