Kurnik, Karin and Bartsch, Ingrid and Maul-Pavicic, Andrea and Ehl, Stephan and Sandrock-Lang, Kirstin and Bidlingmaier, Christoph and Rombach, Nina and Busse, Anja and Belohradsky, Bernd H. and Mueller-Hoecker, Josef and Aslanidis, Charalampos and Schmitz, Gerd and Zieger, Barbara (2013) Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype. PLATELETS, 24 (7). pp. 538-543. ISSN 0953-7104, 1369-1635
Full text not available from this repository. (Request a copy)Abstract
Patients with Hermansky-Pudlak syndrome type 2 (HPS2) present with oculocutaneous albinism, nystagmus, prolonged bleeding time, and increased susceptibility to infections. Twelve HPS2 patients with mutations in the beta 3A-subunit of the cytosolic adaptor-related protein complex 3 (AP3B1, also called HPS2) have been described so far. Here, we report on a patient with oculocutaneous albinism who developed a life-threatening bleeding after tonsillectomy. She presented with moderate neutropenia and reduced granulopoiesis. Analyzing patient's impaired platelet function using electron microscopy and flow cytometry led to the diagnosis of HPS2. Flow cytometric analysis of the patient's platelets showed already elevated CD63 expression on resting platelets with no further increase after thrombin stimulation. Natural killer (NK) cell degranulation was partially impaired but target cell lysis of NK cells and cytotoxic T-lymphocytes (CTLs) were normal and the patient did not develop signs of hemophagocytic syndrome. Molecular genetic analyses revealed a novel 2 bp-deletion (c.3222_3223delTG) in the last exon of AP3B1 causing a frameshift and a prolonged altered protein. The location of the deletion at the very C-terminal end may prevent a complete loss of the HPS2 protein leading to a less pronounced severity of immunodeficiency than in other HPS2 patients.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; BETA-3A SUBUNIT; AP-3 ADAPTER; PROTEINS; TRAFFICKING; DEFICIENCY; TYROSINASE; DELETION; BINDING; MOUSE; Hermansky-Pudlak syndrome; HPS2; novel mutation; platelet secretion defect; immunodeficiency |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 28 Apr 2020 11:48 |
| Last Modified: | 28 Apr 2020 11:48 |
| URI: | https://pred.uni-regensburg.de/id/eprint/17360 |
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