A case with ICF syndrome lost to rubella pneumonitis
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Dosyalar
Tarih
2005
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
TURKISH J PEDIATRICS
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
The 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.
Açıklama
Anahtar Kelimeler
ICF syndrome, immunodeficiency, centromeric instability, facial anomalies, rubella
Kaynak
TURKISH JOURNAL OF PEDIATRICS
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
47
Sayı
1
