TY  - JOUR
A1  - von Bernuth, Horst
A1  - Ravindran, Ethiraj
A1  - Du, Hang
A1  - Froehler, Sebastian
A1  - Strehl, Karoline
A1  - Kraemer, Nadine
A1  - Issa-Jahns, Lina
A1  - Amulic, Borko
A1  - Ninnemann, Olaf
A1  - Xiao, Mei-Sheng
A1  - Eirich, Katharina
A1  - Koelsch, Uwe
A1  - Hauptmann, Kathrin
A1  - John, Rainer
A1  - Schindler, Detlev
A1  - Wahn, Volker
A1  - Chen, Wei
A1  - Kaindl, Angela M.
T1  - Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
JF  - Orphanet Journal of Rare Dieeases
N2  - The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 gene mutations, is acknowledged primarily as an isolated B-cell defect. Here, we extend the phenotype spectrum by describing, in particular, for the first time the development of a combined immune defect throughout the disease course as well as putative autoimmune phenomena such as granulomatous hepatitis and nephritis. We also demonstrate impaired cell-proliferation and increased cell death of immune and non-immune cells as well as data suggesting a chromosome separation defect in addition to the known chromosome condensation defect.
KW  - ZBTB24
KW  - ICF2
KW  - granulomas
KW  - facial anomalies
KW  - centromeric instability
KW  - intellectual disability
KW  - lymphoma
KW  - ZBTB24 mutations
KW  - DNMT3B
KW  - TYPE-2
KW  - immunodeficiency
KW  - microcephaly
KW  - DNA methyltransferase gene
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-114859
VL  - 9
ER  - 
TY  - JOUR
A1  - Schroten, Horst
A1  - Wolske, Anja
A1  - Plogmann, Ricarda
A1  - Hanisch, Franz-Georg
A1  - Hacker, Jörg
A1  - Uhlenbrück, Gerhard
A1  - Wahn, Volker
T1  - Binding of cloned S-fimbriated E. coli to human buccal epithelial cells-different inhibition of binding by neonatal saliva and adult saliva.
N2  - Investigations were carried out on the adhesion of cloned S-fimbriated E. coli, labelled with fluoresceinisothiocyanate (FITC) to human buccal epithelial cells. Fluorescence microscopic analysis revealed binding of bacteria to 75-95% of epithelial cells. Inhibition experiments with fetuin, a 1-acid glycoprotein and N-acetyl neuraminic acid confirmed the specificity of bacterial binding to sialoglycoproteins. Further studies using saliva as an inhibitor resulted in a 4-5 times stronger binding inhibition by newborn saliva in comparison to adult saliva coinciding with a 4-5 times higher content of total N-acetyl neuraminic acid in samples of newborn saliva. In Western blot analysis sialoglycoprotein bands with a molecular weight >200 kD reacting with wheat germ agglutinin (WGA), were only identified in samples of newborn saliva. These bands are classified as mucins on account of molecular weight and staining. These data suggest that saliva mucins could represent a major defense mechanism against bacterial infections at a stage of ontogeny where the secretory IgAsystem is not yet developed.
N2  - bestätigt werden. Wurde als Inhibitor Speichel eingesetzt, so ergab sich für den Speichel Neugeborener eine 4-Sfach stärkere Inhibition als für Erwachsenenspeichel Parallel dazu ergab die Untersuchung der Speichelproben für Neugeborene einen 4-Sfachen höheren. Die Adhäsion clonierter, Fluoresceinisothiocyanat (FITC)-markierter, S-Fimbrien tragender E. coli an menschliche Mundschleimhautzellen wurde untersucht. Die fluoreszenzmikroskopische Auswertung ergab, daß 75-95% der Schleimhautzellen Bakterien gebunden hatten. Die Spezifität der Bindung der Bakterien an Sialoglykoproteine konnte durch Inhibitionsexperimente mit Fetuin, saurem arGlykoprotein und N-acetyl-Neuraminsäure Gehalt an Gesamt-N-acetyl-Neuraminsäure. In Westerohlot Analysen konnten nur in Proben nativen Speichels Neugeborener mit Wheat Germ Agglutinin (WGA) reagierende Sialoglykoproteinbanden mit Molekülmassen > 200 kD identifiziert werden, die aufgrund ihres Molekulargewichtes und Färbeverhaltens der Klasse der Mucine zuzuordnen sind. Speichelmucine können einen wichtigen Abwehrmechanismus gegen Infektionen in einer Periode der kindlichen Entwicklung darstellen, in der das sekretorische IgA-System noch nicht voll entwickelt ist.
KW  - Escherichia coli
KW  - Speichel
KW  - Neugeborenes
KW  - Erwachsener
KW  - Adhäsion
Y1  - 1991
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-86291
ER  -