17053
2017
eng
e0181947
8
12
article
1
2018-10-29
--
--
Deletion of Batf3-dependent antigen-presenting cells does not affect atherosclerotic lesion formation in mice
Atherosclerosis is the main underlying cause for cardiovascular events such as myocardial infarction and stroke and its development might be influenced by immune cells. Dendritic cells (DCs) bridge innate and adaptive immune responses by presenting antigens to T cells and releasing a variety of cytokines. Several subsets of DCs can be discriminated that engage specific transcriptional pathways for their development. Basic leucine zipper transcription factor ATF-like 3 (Batf3) is required for the development of classical CD8α\(^{+}\) and CD103\(^{+}\) DCs. By crossing mice deficient in Batf3 with atherosclerosis-prone low density lipoprotein receptor (Ldlr\(^{−/-}\))-deficient mice we here aimed to further address the contribution of Batf3-dependent CD8α\(^{+}\) and CD103\(^{+}\) antigen-presenting cells to atherosclerosis. We demonstrate that deficiency in Batf3 entailed mild effects on the immune response in the spleen but did not alter atherosclerotic lesion formation in the aorta or aortic root, nor affected plaque phenotype in low density lipoprotein receptor-deficient mice fed a high fat diet. We thus provide evidence that Batf3-dependent antigen-presenting cells do not have a prominent role in atherosclerosis.
PLoS ONE
10.1371/journal.pone.0181947
28771609
urn:nbn:de:bvb:20-opus-170535
PLoS ONE 12(8):e0181947 (2017). DOI: 10.1371/journal.pone.0181947
false
true
CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International
Jesus Gil-Pulido
Clement Cochain
Malte A. Lippert
Nicole Schneider
Elke Butt
Núria Amézaga
Alma Zernecke
eng
uncontrolled
atherosclerosis
eng
uncontrolled
dendritic cells
eng
uncontrolled
Batf3
eng
uncontrolled
deficiency
Medizin und Gesundheit
open_access
Institut für Experimentelle Biomedizin
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/17053/045_Gil-Pulido-PLOS-ONE.pdf
14999
2015
eng
37
13
article
1
2017-06-09
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--
Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene
Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment and immune dysregulation associated with lupus-like features. SPENCD is caused by biallelic mutations in the ACP5 gene encoding tartrate-resistant phosphatase. We report on a child, who presented with spasticity, multisystem inflammation, autoimmunity and immunodeficiency with minimal metaphyseal changes due to compound heterozygosity for two novel ACP5 mutations. These findings extend the phenotypic spectrum of SPENCD and indicate that ACP5 mutations can cause severe immune dysregulation and neurological impairment even in the absence of metaphyseal dysplasia.
Pediatric Rheumatology
10.1186/s12969-015-0035-7
urn:nbn:de:bvb:20-opus-149990
Pediatric Rheumatology (2015) 13:37. DOI: 10.1186/s12969-015-0035-7
CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International
Hermann Girschick
Christine Wolf
Henner Morbach
Christoph Hertzberg
Min Ae Lee-Kirsch
eng
uncontrolled
resistant acid phosphatase
eng
uncontrolled
expression
eng
uncontrolled
systemic lupus erythematosus
eng
uncontrolled
cerebral calcification
eng
uncontrolled
deficiency
eng
uncontrolled
autoimmunity
eng
uncontrolled
dysplasia
eng
uncontrolled
trap
eng
uncontrolled
spondyloenchondrodysplasia
eng
uncontrolled
ACP5
eng
uncontrolled
immunodeficiency
eng
uncontrolled
type I interferonopathy
Gynäkologie, Geburtsmedizin, Pädiatrie, Geriatrie
open_access
Kinderklinik und Poliklinik
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/14999/severe_immune_Girschick.pdf
13992
2015
eng
182
15
article
1
2016-11-02
--
--
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
Background: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. Methods: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers.
Results: Thirteen patients from 6 non-related families were included. Age of onset was 18.8 +/- 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869C>T (p.Gln957Stop), c.5928G>A (p.Trp1976Stop)).
Conclusions: Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c.3031 + 2T>C) suggested a possible founder effect.
BMC Neurology
10.1186/s12883-015-0449-3
urn:nbn:de:bvb:20-opus-139920
BMC Neurology (2015) 15:182. DOI 10.1186/s12883-015-0449-3
Jens A. Petersen
Thierry Kuntzer
Dirk Fischer
Maja von der Hagen
Angela Veronika
Johannes A. Lobrinus
Wolfram Kress
Elisabeth J. Rushing
Michael Sinnreich
Hans H. Jung
eng
uncontrolled
gene mutations
eng
uncontrolled
miyoshi myopathy
eng
uncontrolled
gridle muscular-dystrophy
eng
uncontrolled
features
eng
uncontrolled
deficiency
eng
uncontrolled
heterogeneity
eng
uncontrolled
2B
eng
uncontrolled
italian patients
eng
uncontrolled
molecular analysis
eng
uncontrolled
membrane repair
Menschliche Anatomie, Zytologie, Histologie
open_access
Institut für Humangenetik
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/13992/Petersen_Fs12883-015-0449-3.pdf
12569
2013
eng
47
11
article
1
2016-01-27
--
--
Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO)
Sterile bone inflammation is the hallmark of autoinflammatory bone disorders, including chronic nonbacterial osteomyelitis (CNO) with its most severe form chronic recurrent multifocal osteomyelitis (CRMO). Autoinflammatory osteopathies are the result of a dysregulated innate immune system, resulting in immune cell infiltration of the bone and subsequent osteoclast differentiation and activation. Interestingly, autoinflammatory bone disorders are associated with inflammation of the skin and/or the intestine. In several monogenic autoinflammatory bone disorders mutations in disease-causing genes have been reported. However, regardless of recent developments, the molecular pathogenesis of CNO/CRMO remains unclear. Here, we discuss the clinical presentation and molecular pathophysiology of human autoinflammatory osteopathies and animal models with special focus on CNO/CRMO. Treatment options in monogenic autoinflammatory bone disorders and CRMO will be illustrated.
Pediatric Rheumatology
10.1186/1546-0096-11-47
1546-0096
urn:nbn:de:bvb:20-opus-125694
Pediatric Rheumatology 2013, 11:47. doi:10.1186/1546-0096-11-47
Christian M. Hedrich
Sigrun R. Hofmann
Jessica Pablik
Henner Morbach
Hermann J. Girschick
eng
uncontrolled
bisphosphonate treatment
eng
uncontrolled
IL-10 expression
eng
uncontrolled
TNF-α
eng
uncontrolled
IL-10
eng
uncontrolled
inflammation
eng
uncontrolled
bone
eng
uncontrolled
CRMO
eng
uncontrolled
CNO
eng
uncontrolled
DIRA
eng
uncontrolled
PAPA
eng
uncontrolled
Majeed-Syndrome
eng
uncontrolled
disease
eng
uncontrolled
deficiency
eng
uncontrolled
pediatric patients
eng
uncontrolled
treatment
eng
uncontrolled
TLR4
eng
uncontrolled
PAPA syndrome
eng
uncontrolled
hypertrophic osteodystrophy
eng
uncontrolled
chronic nonbacterial osteomyelitis
eng
uncontrolled
congenital dyserythropoietic anemia
Gynäkologie, Geburtsmedizin, Pädiatrie, Geriatrie
open_access
Kinderklinik und Poliklinik
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/12569/054_Hedrich_Pediatric_Rheumatology.pdf