Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
about
Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.Hermansky-Pudlak syndrome: the importance of molecular subtypingDisruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex diseaseIdentification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster.Adaptor protein-3 in dendritic cells facilitates phagosomal toll-like receptor signaling and antigen presentation to CD4(+) T cells.The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2Neutropenia in primary immunodeficiencyFamilial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Primary immunodeficiency diseases associated with neurologic manifestations.The biogenesis of lysosomes and lysosome-related organellesSynergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.Defective HIV-1 particle assembly in AP-3-deficient cells derived from patients with Hermansky-Pudlak syndrome type 2.Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype.Increased autophagic sequestration in adaptor protein-3 deficient dendritic cells limits inflammasome activity and impairs antibacterial immunity.Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.Neurological Manifestations of Primary Immunodeficiencies
P2860
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P2860
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
description
2009 nî lūn-bûn
@nan
2009 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
@ast
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
@en
type
label
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
@ast
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
@en
prefLabel
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
@ast
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
@en
P2093
P2860
P1433
P1476
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
@en
P2093
Andrew D Mumford
Matt Wenham
Matthew L Jones
Michelle Cummins
Philip J Ancliff
Rachel Kilner
Samantha Grieve
Sarah Booth
P2860
P304
P356
10.3324/HAEMATOL.2009.012286
P577
2009-08-13T00:00:00Z