A new familial defect in neutrophil bactericidal activity.
A 4-year-old boy with recurrent infections and his clinically healthy father showed a severe, isolated defect in bactericidal activity of peripheral neutrophil leukocytes (the mother and the only sister were normal). Lymph nodes, spleen and liver of the child presented a massive infiltration by macrophages. Such infiltration and the segmentary albinism of the hair resemble traits of the Chediak-Higashi syndrome, but some of the most relevant traits of this syndrome are absent, since all other neutrophil functions were normal in our patient.
D000328:Adult; D000417:Albinism / Q000235:genetics / Q000276:immunology; D002634:Chemotaxis, Leukocyte; D002675:Child, Preschool; D004817:Epidermis / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008099:Liver / Q000473:pathology; D008198:Lymph Nodes / Q000648:ultrastructure; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008544:Melanocytes / Q000648:ultrastructure; D009504:Neutrophils / Q000276:immunology*; D010375:Pedigree; D010585:Phagocyte Bactericidal Dysfunction / Q000235:genetics*; D013154:Spleen / Q000473:pathology; D014617:Vacuoles / Q000648:ultrastructure