(Q36761555)

16 August 2017

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2 (English)

1 reference

Hermansky-Pudlak syndrome

16 August 2017

1 reference

hemophagocytic lymphohistiocytosis

inferred from title

1 reference

11

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16 August 2017

Annette Schmitt-Graeff

23

Geneviève de Saint Basile

Annette Schmitt-Graeff

0 references

22

Geneviève de Saint Basile

0 references

Sandra Ammann

Sandra Ammann

3

0 references

Nima Rezaei

Nima Rezaei

21

0 references

Stephan Ehl

29

Stephan Ehl

1 reference

16 August 2017

12

Gritta Janka

1 reference

16 August 2017

Birthe Jessen

1

1 reference

16 August 2017

Sebastian F N Bode

2

1 reference

16 August 2017

Subarna Chakravorty

4

1 reference

16 August 2017

Graham Davies

5

1 reference

16 August 2017

Jana Diestelhorst

6

1 reference

16 August 2017

Melissa Frei-Jones

7

1 reference

16 August 2017

William A Gahl

8

1 reference

16 August 2017

Bernadette R Gochuico

9

1 reference

16 August 2017

Matthias Griese

10

1 reference

16 August 2017

Christoph Klein

13

1 reference

16 August 2017

Tamara Kögl

14

1 reference

16 August 2017

Karin Kurnik

15

1 reference

16 August 2017

Kai Lehmberg

16

1 reference

16 August 2017

Andrea Maul-Pavicic

17

1 reference

16 August 2017

Andrew D Mumford

18

1 reference

16 August 2017

David Pace

19

1 reference

16 August 2017

Nima Parvaneh

20

1 reference

16 August 2017

Klaus Schwarz

24

1 reference

16 August 2017

Gulsun T Karasu

25

1 reference

16 August 2017

Barbara Zieger

26

1 reference

16 August 2017

Udo Zur Stadt

27

1 reference

16 August 2017

Peter Aichele

28

1 reference

16 August 2017

language of work or name

English

0 references

publication date

12 February 2013

1 reference

16 August 2017

1 reference

16 August 2017

121

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16 August 2017

15

1 reference

16 August 2017

2943-2951

1 reference

Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Adaptor protein-3 in dendritic cells facilitates phagosomal toll-like receptor signaling and antigen presentation to CD4(+) T cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

How I treat hemophagocytic lymphohistiocytosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Novel insights from adaptor protein 3 complex deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

29 September 2017

Hemophagocytic syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Genetic defects affecting lymphocyte cytotoxicity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

The adaptor protein AP-3 is required for CD1d-mediated antigen presentation of glycosphingolipids and development of Valpha14i NKT cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Lytic granules, secretory lysosomes and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Assembly and function of AP-3 complexes in cells expressing mutant subunits.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Aplastic anemia rescued by exhaustion of cytokine-secreting CD8+ T cells in persistent infection with lymphocytic choriomeningitis virus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Cytotoxicity mediated by T cells and natural killer cells is greatly impaired in perforin-deficient mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Mutations in mice that influence natural killer (NK) cell activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Bifurcation of Toll-Like Receptor 9 Signaling by Adaptor Protein 3

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Pulmonary pathologies in pallid mice result from nonhematopoietic defects.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Quantification of lymphocytic choriomeningitis virus with an immunological focus assay in 24- or 96-well plates

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Viral escape by selection of cytotoxic T cell-resistant virus variants in vivo

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Lysosomal localization of murine CD1d mediated by AP-3 is necessary for NK T cell development

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

A functional and kinetic comparison of antiviral effector and memory cytotoxic T lymphocyte populations in vivo and in vitro.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624940

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

4 December 2018

1 reference

12 December 2020

Hematopoietic cell transplantation for Chediak–Higashi syndrome

1 reference

12 December 2020

Novel mutation causing Hermansky-Pudlak Syndrome Type 2

1 reference

12 December 2020

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D

1 reference

12 December 2020

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes

1 reference

12 December 2020

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

1 reference

12 December 2020

Discrete visual defects in pearl mutant mice

1 reference

12 December 2020

10.1182/BLOOD-2012-10-463166

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

23403622

1 reference