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1. 先天性および後天性血小板機能障害 congenital and acquired disorders of platelet function
2. 炎症性腸疾患における遺伝的要因 genetic factors in inflammatory bowel disease
3. 間質性肺疾患を有する成人に対するアプローチ：臨床的評価 approach to the adult with interstitial lung disease clinical evaluation
4. チェディアック・東症候群 chediak higashi syndrome
5. 特発性間質性肺炎：臨床症状および病理 idiopathic interstitial pneumonias clinical manifestations and pathology

Harris-Glocker M, Thornburg LL, Pressman EK.SourceDepartment of Obstetrics and Gynecology, University of Rochester Medical Center, 601 Elmwood Avenue, Box 668, Rochester, NY 14642, USA.
The Journal of reproductive medicine.J Reprod Med.2013 May-Jun;58(5-6):267-70.
BACKGROUND: Hermansky-Pudlak syndrome (HPS), a rare autosomal-recessive disorder encompassing multiple organs, is characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in bleeding diathesis, and ceroid lipofuscin deposition which can lead to pulmonary fibrosis, colitis
PMID 23763015

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.

Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S.SourceCentre of Chronic Immunodeficiency, University Medical Center Freiburg and University of Freiburg, Breisacher Strasse 117, Freiburg, Germany.
Blood.Blood.2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12.
Genetic disorders of lymphocyte cytotoxicity predispose patients to hemophagocytic lymphohistiocytosis (HLH). Reduced lymphocyte cytotoxicity has been demonstrated in Hermansky-Pudlak syndrome type 2 (HPS2), but only a single patient was reported who developed HLH. Because that patient also carried
PMID 23403622

Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.

Jones ML, Murden SL, Brooks C, Maloney V, Manning RA, Gilmour KC, Bharadwaj V, de la Fuente J, Chakravorty S, Mumford AD.Source1Bristol Heart Institute & School of Cellular and Molecular Medicine,University of Bristol, Bristol, UK.
BMC medical genetics.BMC Med Genet.2013 Apr 4;14:42. doi: 10.1186/1471-2350-14-42.
BACKGROUND: Hermansky-Pudlak syndrome 2 (HPS2; OMIM #608233) is a rare, autosomal recessive disorder caused by loss-of-function genetic variations affecting AP3B1, which encodes the β3A subunit of the adaptor-related protein complex 3 (AP3). Phenotypic characteristics include reduced pigmentation,
PMID 23557002