A case with ICF syndrome lost to rubella pneumonitis

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dc.contributor.authorReisli, İsmail
dc.contributor.authorYıldırım, Mahmut Selman
dc.contributor.authorKöksal, Yavuz
dc.contributor.authorAvunduk, Mustafa Cihat
dc.contributor.authorAcar, Aynur
dc.date.accessioned2020-03-26T16:56:24Z
dc.date.available2020-03-26T16:56:24Z
dc.date.issued2005
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractThe immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by variable immunodeficiency, instability of the pericentromeric heterochromatin, and facial dysmorphism. Here we report a new case of ICF syndrome who died of rubella pneumonitis. A six year-old-girl who was the first child of consanguineous parents was admitted to the hospital because of bronchopneumonia. Laboratory investigations revealed pan-hypogammaglobulinemia, lymphopenia, normal proportions of peripheral blood lymphocytes with an inverted CD4/CD8 ratio, and interstitial pneumonia with a positive serology of acute rubella infection. The ICF syndrome was diagnosed by centromeric instability in the standard cytogenetic analysis. An inclusion body was demonstrated in the lung biopsy after the death of the patient. Chromosomal investigation could be helpful along with other tests for diagnosis of variable immunodeficiency accompanied by facial dysmorphism.en_US
dc.identifier.endpage88en_US
dc.identifier.issn0041-4301en_US
dc.identifier.issue1en_US
dc.identifier.pmid15884637en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage85en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/19557
dc.identifier.volume47en_US
dc.identifier.wosWOS:000228821500017en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTURKISH J PEDIATRICSen_US
dc.relation.ispartofTURKISH JOURNAL OF PEDIATRICSen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectICF syndromeen_US
dc.subjectimmunodeficiencyen_US
dc.subjectcentromeric instabilityen_US
dc.subjectfacial anomaliesen_US
dc.subjectrubellaen_US
dc.titleA case with ICF syndrome lost to rubella pneumonitisen_US
dc.typeArticleen_US

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