دورية أكاديمية
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1
| العنوان: | Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1 |
|---|---|
| المؤلفون: | Matt Wenham, Samantha Grieve, Michelle Cummins, Matthew L. Jones, Sarah Booth, Rachel Kilner, Philip J. Ancliff, Gillian M. Griffiths, Andrew D. Mumford |
| المصدر: | Haematologica, Vol 95, Iss 2 (2010) |
| بيانات النشر: | Ferrata Storti Foundation, 2010. |
| سنة النشر: | 2010 |
| المجموعة: | LCC:Diseases of the blood and blood-forming organs |
| مصطلحات موضوعية: | Diseases of the blood and blood-forming organs, RC633-647.5 |
| الوصف: | Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins to lysosomes and related organelles. We now report 2 unrelated subjects with HPS2 who show a characteristic clinical phenotype of oculocutaneous albinism, platelet and T-lymphocyte dysfunction and neutropenia. The subjects were homozygous for different deletions within AP3B1 (g.del180242-180866, c.del153-156), which encodes the AP-3β3A subunit, resulting in frame shifts and introduction of nonsense substitutions (p.E693fsX13, p.E52fsX11). In the subject with p.E693fsX13, this resulted in expression of a truncated variant β3A protein. Cytotoxic T-lymphocyte (CTL) clones from both study subjects showed increased cell-surface expression of CD63 and reduced cytotoxicity. Platelets showed impaired aggregation and reduced uptake of 3H-serotonin. These findings are consistent with CTL granule and platelet dense granule defects, respectively. This report extends the clinical and laboratory description of HPS2. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 0390-6078 1592-8721 |
| العلاقة: | https://haematologica.org/article/view/5507Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test |
| DOI: | 10.3324/haematol.2009.012286 |
| الوصول الحر: | https://doaj.org/article/01897d01ce874b15b3fba6dc3d45174eTest |
| رقم الانضمام: | edsdoj.01897d01ce874b15b3fba6dc3d45174e |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 03906078 15928721 |
|---|---|
| DOI: | 10.3324/haematol.2009.012286 |