XXXX : an immunologic assessment of 15 cases.

@entity1 @entity137 @entity1423 @entity3794 @entity2348 @entity6931 @entity47464 @entity74 @entity13276 @entity30
PURPOSE: The @entity13276 is an @entity74 consisting of the triad of oculocutaneous albinism, a storage pool @entity1423 , and multisystem tissue deposition of ceroid pigment. Although the underlying metabolic defect has not been identified, secondary or associated effects on the immune system are suggested by reports of an association with disorders such as @entity3794 , @entity30 , lupus, and frequent @entity2348 . We evaluated a large group of @entity1 with the @entity13276 to assess immune competence in this condition. @entity1 AND METHODS: Fifteen @entity1 with this syndrome were studied. Control subjects included healthy volunteers in the same age range as the @entity1 . Peripheral blood lymphocytes and neutrophils were isolated according to previously described methods. Immunofluorescent staining, flow cytometry, and @entity137 assays were performed. Determination of lymphocyte transformation, mixed lymphocyte response, and neutrophil function was made. RESULTS: Immunoglobulin levels, complement, lymphocyte subsets, natural killer and lymphokine-activated @entity137 , mixed lymphocyte responses, and lectin-induced transformation were normal in all @entity1 . In addition, there was no evidence for a lymphocyte proliferative response to a preparation of urinary @entity47464 pigment isolated from these @entity1 . Neutrophil function, including @entity6931 -dependent chemiluminescence, chemotaxis, and aggregation was not significantly different from control values. CONCLUSION: The results suggest that there is no generalized defect of peripheral blood lymphocyte or neutrophil function in the @entity13276 . We propose that future studies should examine the possibility that associated disorders arise from a defect within the monocyte-macrophage system, perhaps secondary to ceroid accumulation.
