ArticleHaematologica2010
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
Article in Haematologica, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
30 citing papers in PubMed, 53 citations in OpenAlex.
- Review
- Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants inGenes · 2025Article
- Evaluating the Use of iPSC-Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease.Pediatric pulmonology · 2025Review
- Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.International journal of molecular sciences · 2024Review
- Neutropenia in Childhood-A Narrative Review and Practical Diagnostic Approach.Hematology reports · 2024Review
- Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils.Life science alliance · 2024Article
- Haploidentical Hematopoietic Stem Cell Transplantation for Paediatric Patients with X-linked Lymphoproliferative Syndrome.Mediterranean journal of hematology and infectious diseases · 2024Article
- A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.Human genetics · 2023Article
- Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes.Journal of clinical immunology · 2022Article
- Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.Frontiers in pediatrics · 2022Article
- Hermansky-Pudlak syndrome: Mutation update.Human mutation · 2020Article
- Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.Haematologica · 2019Article
- Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.Genome medicine · 2019Article
- The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.Traffic (Copenhagen, Denmark) · 2019Review
- Neurological Manifestations of Primary Immunodeficiencies.Iranian journal of child neurology · 2018Review
- Increased autophagic sequestration in adaptor protein-3 deficient dendritic cells limits inflammasome activity and impairs antibacterial immunity.PLoS pathogens · 2017Article
- Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.International journal of hematology · 2015Article
- Article
- The biogenesis of lysosomes and lysosome-related organelles.Cold Spring Harbor perspectives in biology · 2014Review
- Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.American journal of respiratory cell and molecular biology · 2014Article
Corrections and comments
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Authors and funding
9 authors at 8 institutions in 2 countries.
Funding
Abstract
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-3beta3A 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 beta3A 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 (3)H-serotonin. These findings are consistent with CTL granule and platelet dense granule defects, respectively. This report extends the clinical and laboratory description of HPS2.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.