ArticleBlood2016
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Article in Blood, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers.
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Who cites it
86 citing papers in PubMed, 175 citations in OpenAlex.
- Serum anti-AP3D1 antibodies are risk factors for acute ischemic stroke related with atherosclerosis.Scientific reports · 2021Trial
- Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.PloS one · 2018Trial
- Review
- Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.The Journal of dermatology · 2026Review
- Autophagy, endolysosomes and extracellular space in autoimmune and innate immune defects.Frontiers in immunology · 2026Review
- The Golgi apparatus: adaptations to neuronal shape and functions.The EMBO journal · 2026Review
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- BLOC-1 and BORC: Complex regulators of endolysosomal dynamics.Cell chemical biology · 2025Review
- Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation.Oxford medical case reports · 2025Article
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- Neurodevelopmental origins of structural and psychomotor defects in CXCR4-linked primary immunodeficiency.Neuron · 2025Article
- Impaired Aggrephagy, Interrupted Vesicular Trafficking, and Cellular Stress, Lead to Protein Aggregation, and Synaptic Dysfunction in Cerebellum of Children and Adults with Idiopathic Autism.Cerebellum (London, England) · 2025Article
- Reprogramming of endolysosomes for melanogenesis in BLOC-1-deficient melanocytes.Current biology : CB · 2025Article
- Reference genes validation in tear fluid for RNA analysis in ocular surface disease.Scientific reports · 2025Article
- Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia.The American journal of case reports · 2025Article
- Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.Molecular vision · 2025Review
- SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy.Acta epileptologica · 2024Article
- Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone.Internal medicine (Tokyo, Japan) · 2024Article
- Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.International journal of molecular sciences · 2024Review
- Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.Blood · 2024Article
26 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 8 institutions in 2 countries.
Funding
Abstract
Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently associated with albinism. We studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing but with no mutation in genes so far associated with albinism and immunodeficiency. Whole exome sequencing identified a homozygous mutation in AP3D1 that leads to destabilization of the adaptor protein 3 (AP3) complex. AP3 complex formation and the degranulation defect in patient T cells were restored by retroviral reconstitution. A previously described hypopigmented mouse mutant with an Ap3d1 null mutation (mocha strain) shares the neurologic phenotype with our patient and shows a platelet storage pool deficiency characteristic of Hermansky-Pudlak syndrome (HPS) that was not studied in our patient because of a lack of bleeding. HPS2 caused by mutations in AP3B1A leads to a highly overlapping phenotype without the neurologic symptoms. The AP3 complex exists in a ubiquitous and a neuronal form. AP3D1 codes for the AP3δ subunit of the complex, which is essential for both forms. In contrast, the AP3β3A subunit, affected in HPS2 patients, is substituted by AP3β3B in the neuron-specific heterotetramer. AP3δ deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10.
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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.