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pubmed:abstractText |
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.
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