Article
Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis.
PloS one - 1 Jan 2016
Kirshenbaum Arnold S, Cruse Glenn, Desai Avanti, Bandara Geethani, Leerkes Maarten, Lee Chyi-Chia R, Fischer Elizabeth R, O'Brien Kevin J, Gochuico Bernadette R, Stone Kelly, Gahl William A, Metcalfe Dean D
Abstract excerpt
Hermansky-Pudlak Syndrome type-1 (HPS-1) is an autosomal recessive disorder caused by mutations in HPS1 which result in reduced expression of the HPS-1 protein, defective lysosome-related organelle (LRO) transport and absence of platelet delta granules. Patients with HPS-1 exhibit oculocutaneous albinism, colitis, bleeding and pulmonary fibrosis postulated to result from a dysregulated immune response. The effect...
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