ALLMedicine™ Hermansky-Pudlak Syndrome Center

May 13th, 2022 - This natural history protocol provides for the evaluation of patients with idiopathic inflammatory bowel diseases (ulcerative colitis, Crohn's disease, IBD associated with immunodeficiency and genetic diseases such as chronic granulomatous disease...

May 13th, 2022 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary ...

May 6th, 2022 - HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF). Hps1ep/ep (pale ear) is a naturally occurring HPS-1 mou...

Mar 1st, 2022 - Recycling endosomes (REs) are tubular-vesicular organelles generated from early/sorting endosomes in all cell types. These organelles play a key role in the biogenesis of melanosomes, a lysosome-related organelle produced by melanocytes. REs deliv...

Feb 9th, 2022 - Liver diseases remain unexplained in up to 30% of adult patients; genetic analysis could help establish the correct diagnosis. In six adult patients with cryptogenic liver disease, we performed whole-exome sequencing (WES) and evaluated the indivi...

May 13th, 2022 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary ...

May 13th, 2022 - This natural history protocol provides for the evaluation of patients with idiopathic inflammatory bowel diseases (ulcerative colitis, Crohn's disease, IBD associated with immunodeficiency and genetic diseases such as chronic granulomatous disease...

Jun 11th, 2013 - Action Points A newly-described immunodeficiency syndrome of neutrophil defects, bone marrow fibrosis, nephromegaly, and life-threatening infections arises from a genetic mutation that impairs movement of proteins within cells. Note that although ...

Abstract and Introduction Hermansky-Pudlak syndrome (HPS) is an autosomal recessive inherited disease consisting of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss), (2) platelet storage pool deficiency (with ...

Literature Review/Discussion General aspects. In a classic study in Puerto Rico, of 693 persons with albinism, HPS was found in 495 (approximately 5/6 albino Puerto Ricans).[9] In the affected subjects, the consistent finding was storage pool defi...