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

Basit Öğe Kaydı
dc.contributor.authorHagleitner, M. M.
dc.contributor.authorLankester, A.
dc.contributor.authorMaraschio, P.
dc.contributor.authorHulten, M.
dc.contributor.authorFryns, J. P.
dc.contributor.authorSchuetz, C.
dc.contributor.authorGimelli, G.
dc.date.accessioned2020-03-26T17:26:30Z
dc.date.available2020-03-26T17:26:30Z
dc.date.issued2008
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractBackground: 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.en_US
dc.identifier.doi10.1136/jmg.2007.053397en_US
dc.identifier.endpage99en_US
dc.identifier.issn0022-2593en_US
dc.identifier.issue2en_US
dc.identifier.pmid17893117en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage93en_US
dc.identifier.urihttps://dx.doi.org/10.1136/jmg.2007.053397
dc.identifier.urihttps://hdl.handle.net/20.500.12395/22256
dc.identifier.volume45en_US
dc.identifier.wosWOS:000252871300005en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherB M J PUBLISHING GROUPen_US
dc.relation.ispartofJOURNAL OF MEDICAL GENETICSen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.titleClinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)en_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu