Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis

• Published in: PloS one Vol. 11; no. 7; p. e0159177
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 26.07.2016; Public Library of Science (PLoS)
• Subjects: Adult; Agglomeration; Albinism; Allergies; Alveoli; Analysis; Automation; Biology and Life Sciences; Biomarkers; Biopsy; Bleeding; Case-Control Studies; CD34 antigen; CD63 antigen; Cell culture; Cell Line; Cells, Cultured; Chemotaxis; Cluster Analysis; Colitis; Cytokines; Degranulation; Diagnosis; Extracellular matrix; Extracellular Matrix - metabolism; Female; Fibronectin; Fibrosis; Galectin-3; Gene expression; Gene Expression Profiling; Gene mutation; Genomes; Granular materials; Granule cells; Health aspects; Hereditary diseases; Hermanski-Pudlak Syndrome - diagnosis; Hermanski-Pudlak Syndrome - genetics; Hermanski-Pudlak Syndrome - metabolism; Hermansky-Pudlak syndrome; Humans; Imatinib Mesylate - pharmacology; Immune response; Immune system; Immunophenotyping; Infectious diseases; Interleukin 6; Interleukin 8; Laboratories; Lung - metabolism; Lung - pathology; Lung diseases; Male; Mast cells; Mast Cells - drug effects; Mast Cells - metabolism; Mast Cells - ultrastructure; Medicine and Health Sciences; Melanosomes; Membrane Proteins - genetics; Middle Aged; Mutation; Oculocutaneous albinism; Patients; Phenotype; Platelets; Proteins; Pulmonary Alveoli - metabolism; Pulmonary Alveoli - pathology; Pulmonary fibrosis; Pulmonary Fibrosis - etiology; Pulmonary Fibrosis - metabolism; Pulmonary Fibrosis - pathology; Research and Analysis Methods; Risk factors; Skin; Surface activation; Young Adult

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 alb...