Familial opsonization defect associated with fatal infantile dermatitis, infections, and histiocytosis.
Members of four generations of a family had a defect of serum opsonization for yeast phagocytosis consistent with dominant inheritance. 2 were healthy, one had chronic osteomyelitis, and the fourth developed a fatal illness in infancy characterized by exfoliative dermatitis, diarrhoea, multiple bacterial infections, and failure to thrive, which resembled the two prevously reported cases with this opsonization defect. At necropsy the infant also had lymphoid depletion, which was possibly secondary, and massive histiocytic infiltration.
D000328:Adult; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D001424:Bacterial Infections / Q000150:complications; D001803:Blood Transfusion; D001996:Bronchopneumonia / Q000150:complications; D003165:Complement System Proteins / Q000032:analysis; D003872:Dermatitis / Q000150:complications*; D005260:Female; D006644:Histiocytes; D006646:Histiocytosis, Langerhans-Cell / Q000150:complications* / Q000188:drug therapy; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008198:Lymph Nodes / Q000473:pathology; D008297:Male; D009895:Opsonin Proteins; D010019:Osteomyelitis / Q000150:complications; D010587:Phagocytosis; D012441:Saccharomyces cerevisiae; D018805:Sepsis / Q000150:complications; D012867:Skin / Q000473:pathology; D013210:Staphylococcus / Q000302:isolation & purification; D013950:Thymus Gland / Q000473:pathology
D000900:Anti-Bacterial Agents; D009895:Opsonin Proteins; D003165:Complement System Proteins