Abstract
Siblings of opposite sex experienced frequent and severe bacterial infections, usually respiratory, from early in childhood. The girl's infections were often accompanied by acute and massive Coombs' positive hemolytic anemia, as well as narked hepatosplenomegaly, both of which responded to steroid therapy. Immunoglobulin levels were slightly low but total hemolytic complement, C'3 and antibody production were normal. Her brother has persistent hepatosplenomegaly with mild anemia and repeated severe pneumonia usually due to Pseudomonas. Routine immunologic studies were also normal. Phagocyte function in terms of particle uptake and bacterial killing in both is normal, whereas their serum fails to support the phagocytosis of bacteria by normal white cells in vitro. This defect is corrected by the addition of normal serum to the assay, but not by heat inactivated serum, and opsonin activity of normal serum is not inhibited by patients' serum. No defect can be identified in the parents. The opsonizing deficiency is most marked with gram negative bacteria with 80 to 135%. of initial bacteria surviving at 2 hours, the majority extracellular, as compared to less than 107. survival using normal serum. Present studies suggest a defect in the alternate pathway of complement activation. The patients have been essentially well for several months while receiving infusions of fresh frozen plasma twice monthly.
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Whitten, D., Warren, B., Rai, U. et al. A NEW SYNDROME OF CONGENITALLY DEFECTIVE PHAGOCYTOSIS. Pediatr Res 8, 421 (1974). https://doi.org/10.1203/00006450-197404000-00485
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DOI: https://doi.org/10.1203/00006450-197404000-00485