podcast.de
Anmeldung
Anmeldung Registrierung
Auto Hell Dunkel
Erweiterte Suche
  1. Startseite
  2. Podcasts
  3. Medizin - Open Access LMU - Teil 15/22 Podcast
  4. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Background: Immunodeficiency, centromeric instability and facial
dysmorphism (ICF syndrome) is a rare autosomal recessive disease
characterised by facial dysmorphism, immunoglobulin deficiency and
branching of chromosomes 1, 9 and 16 after PHA stimulation of
lymphocytes. Hypomethylation of DNA of a small fraction of the
genome is an unusual feature of ICF patients which is explained by
mutations in the DNA methyltransferase gene DNMT3B in some, but not
all, ICF patients. Objective: To obtain a comprehensive description
of the clinical features of this syndrome as well as genotype–
phenotype correlations in ICF patients. Methods: Data on ICF
patients were obtained by literature search and additional
information by means of questionnaires to corresponding authors.
Results and conclusions: 45 patients all with proven centromeric
instability were included in this study. Facial dysmorphism was
found to be a common characteristic (n=41/42), especially
epicanthic folds, hypertelorism, flat nasal bridge and low set
ears. Hypo- or agammaglobulinaemia was demonstrated in nearly all
patients (n=39/44). Opportunistic infections were seen in several
patients, pointing to a T cell dysfunction. Haematological
malignancy was documented in two patients. Life expectancy of ICF
patients is poor, especially those with severe infections in
infancy or chronic gastrointestinal problems and failure to thrive.
Early diagnosis of ICF is important since early introduction of
immunoglobulin supplementation can improve the course of the
disease. Allogeneic stem cell transplantation should be considered
as a therapeutic option in patients with severe infections or
failure to thrive. Only 19 of 34 patients showed mutations in
DNMT3B, suggesting genetic heterogeneity. No genotype–phenotype
correlation was found between patients with and without DNMT3B
mutations.

Weitere Episoden

Report of the Working Group `Overall Blood Supply Strategy with Regard to Variant Creutzfeldt-Jakob Disease (vCJD)'

Report of the Working Group `Overall Blood Supply Strategy with Regard to Variant Creutzfeldt-Jakob Disease (vCJD)'

vor 17 Jahren
Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial

Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial

vor 17 Jahren
Guidelines for initiation of anti-tumour necrosis factor therapy in rheumatoid arthritis: similarities and differences across Europe.

Guidelines for initiation of anti-tumour necrosis factor therapy in rheumatoid arthritis: similarities and differences across Europe.

vor 17 Jahren
JNK inhibition sensitises hepatocellular carcinoma cells but not normal hepatocytes to the TNF-related apoptosis-inducing ligand.

JNK inhibition sensitises hepatocellular carcinoma cells but not normal hepatocytes to the TNF-related apoptosis-inducing ligand.

vor 17 Jahren
Influence of peptidylarginine deiminase type 4 genotype and shared epitope on clinical characteristics and autoantibody profile of rheumatoid arthritis.

Influence of peptidylarginine deiminase type 4 genotype and shared epitope on clinical characteristics and autoantibody profile of rheumatoid arthritis.

vor 17 Jahren
Alle Episoden anzeigen
In Podcasts werben
Schalte jetzt Werbung in Podcasts.
Episode melden

„Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).“

Worum geht es? Danach fragen wir noch nach dem Grund.

Abonnenten

Teilen

Mein Archiv

Deine Privatkopie der Folgen, die du nicht verlieren willst.

Podcast-Folgen verschwinden. Feeds werden auf die letzten Episoden gekürzt, Hoster räumen alte Dateien ab, Formate wechseln den Anbieter und lassen ihr Archiv zurück. Mit „Mein Archiv“ sichert podcast.de die Folgen deiner Podcasts für dich — angefangen bei den ältesten, denn die sind zuerst weg.

  • Deine gesicherten Folgen bleiben hörbar, auch wenn das Original offline geht.
  • Auch Folgen, die im heutigen Feed gar nicht mehr stehen — podcast.de kennt sie noch.
  • Herunterladen bleibt möglich, solange die Folge beim Podcaster liegt. Der zählt seine Abrufe wie bisher.
Startet bald

Sei beim Start von Mein Archiv dabei

Mein Archiv ist fast fertig. Trag dich ein, dann bekommst du eine E-Mail, sobald es losgeht – und bist von Anfang an dabei. Wir schreiben dir nur zum Start, keine Werbung, keine Weitergabe deiner Daten.

Du bekommst zuerst eine Bestätigungsmail. Abmelden geht jederzeit. Datenschutz