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Shanahan, F.,Randolph, L.,King, R.,Oseas, R.,Brogan, M.,Witkop, C.,Rotter, J.,Targan, S.
1988
December
Am J Medam J Med
Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases
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85
66
823
8
PURPOSE: The Hermansky-Pudlak syndrome is an autosomal recessive disorder consisting of the triad of oculocutaneous albinism, a storage pool platelet defect, 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 pulmonary fibrosis, granulomatous colitis, lupus, and frequent bacterial infections. We evaluated a large group of patients with the Hermansky-Pudlak syndrome to assess immune competence in this condition. PATIENTS AND METHODS: Fifteen patients with this syndrome were studied. Control subjects included healthy volunteers in the same age range as the patients. Peripheral blood lymphocytes and neutrophils were isolated according to previously described methods. Immunofluorescent staining, flow cytometry, and cytotoxicity 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 cytotoxicity, mixed lymphocyte responses, and lectin-induced transformation were normal in all patients. In addition, there was no evidence for a lymphocyte proliferative response to a preparation of urinary ceroid pigment isolated from these patients. Neutrophil function, including luminol-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 Hermansky-Pudlak syndrome. 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.PURPOSE: The Hermansky-Pudlak syndrome is an autosomal recessive disorder consisting of the triad of oculocutaneous albinism, a storage pool platelet defect, 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 pulmonary fibrosis, granulomatous colitis, lupus, and frequent bacterial infections. We evaluated a large group of patients with the Hermansky-Pudlak syndrome to assess immune competence in this condition. PATIENTS AND METHODS: Fifteen patients with this syndrome were studied. Control subjects included healthy volunteers in the same age range as the patients. Peripheral blood lymphocytes and neutrophils were isolated according to previously described methods. Immunofluorescent staining, flow cytometry, and cytotoxicity 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 cytotoxicity, mixed lymphocyte responses, and lectin-induced transformation were normal in all patients. In addition, there was no evidence for a lymphocyte proliferative response to a preparation of urinary ceroid pigment isolated from these patients. Neutrophil function, including luminol-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 Hermansky-Pudlak syndrome. 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.
0002-9343 (Print) 0002-93
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