Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis

2004 ◽  
Vol 127A (2) ◽  
pp. 201-207 ◽  
Author(s):  
Esther B. Bachli ◽  
Thomas Brack ◽  
Elisabeth Eppler ◽  
Thomas Stallmach ◽  
Ralph M. Trüeb ◽  
...  
Keyword(s):  
Sri Lanka ◽  
Pulmonary Fibrosis ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome

HERMANSKY-PUDLAK SYNDROME TYPE 1 PATIENTS ARE AT RISK TO DEVELOP PULMONARY FIBROSIS: RESULTS OF THE NIH NATURAL HISTORY PROTOCOL

CHEST Journal ◽  
2008 ◽  
Vol 134 (4) ◽  
pp. 21S
Author(s):  
Thomas C. Markello ◽  
Bernadette R. Goichicco ◽  
O’Brien J. Kevin ◽  
Golas Gretchen ◽  
Jose A. Salas ◽  
...  
Keyword(s):  
At Risk ◽  
Natural History ◽  
Pulmonary Fibrosis ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome

scholarly journals Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease

2011 ◽  
Vol 18 (1) ◽  
pp. 56-64 ◽  
Author(s):  
Bernadette R. Gochuico ◽  
Marjan Huizing ◽  
Gretchen A. Golas ◽  
Charles D. Scher ◽  
Maria Tsokos ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Pulmonary Fibrosis ◽  
Lung Disease ◽  
Complex Disease ◽  
Adaptor Protein ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome

scholarly journals A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China

Medicine ◽  
2019 ◽  
Vol 98 (33) ◽  
pp. e16899 ◽  
Author(s):  
Wenjuan Wu ◽  
Keqin Lin ◽  
Yanni Yang ◽  
ZhaoXing Dong ◽  
Tao Zhang ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Novel Mutation ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome

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

PLoS ONE ◽  
2016 ◽  
Vol 11 (7) ◽  
pp. e0159177 ◽  
Author(s):  
Arnold S. Kirshenbaum ◽  
Glenn Cruse ◽  
Avanti Desai ◽  
Geethani Bandara ◽  
Maarten Leerkes ◽  
...  
Keyword(s):  
Mast Cells ◽  
Pulmonary Fibrosis ◽  
Ultrastructural Analysis ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome

scholarly journals Ultrastructural Features of Trafficking Defects Are Pronounced in Melanocytic Nevus in Hermansky–Pudlak Syndrome Type 1

2005 ◽  
Vol 125 (1) ◽  
pp. 154-158 ◽  
Author(s):  
Ken Natsuga ◽  
Masashi Akiyama ◽  
Tadamichi Shimizu ◽  
Tamio Suzuki ◽  
Shiro Ito ◽  
...  
Keyword(s):  
Melanocytic Nevus ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Trafficking Defects

The first Hermansky–Pudlak syndrome type 9 patient with two novel variants in Chinese population

2021 ◽  
Author(s):  
Teng Liu ◽  
Yefeng Yuan ◽  
Dayong Bai ◽  
Xingfeng Yao ◽  
Tianjiao Zhang ◽  
...  
Keyword(s):  
Chinese Population ◽  
Syndrome Type ◽  
Novel Variants ◽  
Hermansky Pudlak Syndrome

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder

2019 ◽  
Vol 62 (11) ◽  
pp. 103583 ◽  
Author(s):  
Mohammed Mohammed ◽  
Nadia Al-Hashmi ◽  
Samiya Al-Rashdi ◽  
Nashat Al-Sukaiti ◽  
Kawther Al-Adawi ◽  
...  
Keyword(s):  
Seizure Disorder ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Biallelic Mutations

scholarly journals Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics

2021 ◽  
Vol 12 ◽  
Author(s):  
Pamela Velázquez-Díaz ◽  
Erika Nakajima ◽  
Parand Sorkhdini ◽  
Ashley Hernandez-Gutierrez ◽  
Adam Eberle ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Molecular Mechanisms ◽  
Management Strategies ◽  
Oculocutaneous Albinism ◽  
Alveolar Epithelial Cells ◽  
Multisystem Disorder ◽  
Alveolar Epithelial ◽  
Novel Treatments ◽  
Molecular Approaches ◽  
Hermansky Pudlak Syndrome

Hermansky-Pudlak Syndrome (HPS) is a rare, genetic, multisystem disorder characterized by oculocutaneous albinism (OCA), bleeding diathesis, immunodeficiency, granulomatous colitis, and pulmonary fibrosis. HPS pulmonary fibrosis (HPS-PF) occurs in 100% of patients with subtype HPS-1 and has a similar presentation to idiopathic pulmonary fibrosis. Upon onset, individuals with HPS-PF have approximately 3 years before experiencing signs of respiratory failure and eventual death. This review aims to summarize current research on HPS along with its associated pulmonary fibrosis and its implications for the development of novel treatments. We will discuss the genetic basis of the disease, its epidemiology, and current therapeutic and clinical management strategies. We continue to review the cellular processes leading to the development of HPS-PF in alveolar epithelial cells, lymphocytes, mast cells, and fibrocytes, along with the molecular mechanisms that contribute to its pathogenesis and may be targeted in the treatment of HPS-PF. Finally, we will discuss emerging new cellular and molecular approaches for studying HPS, including lentiviral-mediated gene transfer, induced pluripotent stem cells (iPSCs), organoid and 3D-modelling, and CRISPR/Cas9-based gene editing approaches.

scholarly journals PIRFENIDONE FOR TREATMENT OF PULMONARY FIBROSIS IN HERMANSKY-PUDLAK SYNDROME-1

CHEST Journal ◽  
2008 ◽  
Vol 134 (4) ◽  
pp. 127P
Author(s):  
Bernadette R. Gochuico ◽  
Thomas C. Markello ◽  
Kevin J. O'Brien ◽  
Hilda Cardona ◽  
Jose Salas ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Hermansky Pudlak Syndrome
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