Hermansky-Pudlak Syndrome: Identification of
BLOC-1
BLOC-2
HPS-3
HPS-5
HPS-7
Hermansky-Pudlak syndrome (HPS)
Journal
Frontiers in pharmacology
ISSN: 1663-9812
Titre abrégé: Front Pharmacol
Pays: Switzerland
ID NLM: 101548923
Informations de publication
Date de publication:
2021
2021
Historique:
received:
30
09
2021
accepted:
24
12
2021
entrez:
7
2
2022
pubmed:
8
2
2022
medline:
8
2
2022
Statut:
epublish
Résumé
Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is characterized by oculocutaneous albinism (OCA) and a bleeding diathesis due to a defect regarding melanosomes and platelet delta (δ)-granule secretion. Interestingly, patients with HPS type 2 (HPS-2) or HPS type 10 (HPS-10) present additionally with an immunological defect. We investigated three patients (IP1, IP2, and IP3) who suffer from a bleeding diathesis. Platelet aggregometry showed impaired platelet function and flow cytometry revealed a severely reduced platelet CD63 expression hinting to either a defect of platelet delta granule secretion or a decreased number of delta granules in these patients. However, only IP3 presents with an apparent OCA. We performed panel sequencing and identified a homozygous deletion of exon 6 in
Identifiants
pubmed: 35126127
doi: 10.3389/fphar.2021.786937
pii: 786937
pmc: PMC8807545
doi:
Types de publication
Journal Article
Langues
eng
Pagination
786937Informations de copyright
Copyright © 2022 Boeckelmann, Wolter, Neubauer, Sobotta, Lenz, Glonnegger, Käsmann-Kellner, Mann, Ehl and Zieger.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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