Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome
Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann N, Niethammer K, Fuchs S, Eckl K, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths G, Lehmberg K, Hennies H, Ehl S. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood 2016, 127: 997-1006. PMID: 26744459, PMCID: PMC7611501, DOI: 10.1182/blood-2015-09-671636.Peer-Reviewed Original ResearchConceptsAdaptor protein 3Hermansky-Pudlak syndromeTransport of lysosome-related organellesAssociated with albinismAdaptor protein-3 complexLysosome-related organellesHermansky-PudlakWhole-exome sequencingPlatelet storage pool deficiencyPatient T cellsLack of bleedingStorage pool deficiencyExome sequencingNull mutationMouse mutantsNeurodevelopmental delaySevere neurological disordersT cellsAP3D1Impaired hearingNeurological phenotypeNeurological symptomsHeterogeneous diseaseHomozygous mutationMutations
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