I İ

 

ICF sendromu (immunodeficiency-centromeric instability-facial anomalies)

Kalıtsal - AR

4 fenotip (ICF2, ICF3 ve ICF4 olgularında makroglossi yok)

Fiziksel gelişme geriliği

Hipertelorizm

Kulaklar aşağıda

Burun sırtı düz

Burun ucu küçük

Sinüzit

Basık yüz

Mikrognati

Makroglossi

Kronik bronşit

Bronşiektazi

Pnömoni

Malabsorpsiyon ve diyare

Zeka geriliği

T-lenfosit azlığı

NK-lenfosit azlığı

IgA düşük

IgM yüksek

 

  • De Ravel TJL, Deckers E, Alliet PLO, et al. The ICF syndrome: new case and update. Genetic Counseling, 12: 379-385, 2001

  • Franceschini P, Martino S, Ciocchini M, et al. Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome: report of two new patients and review of the literature. European Journal of Pediatrics, 154: 840-846, 1995

  • Hagleitner MM, Lankester A, Maraschio P, et al. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). Journal of Medical Genetics, 45: 93-99, 2008