Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

• Main Authors: Funda Erol Çipe (Author), Cigdem Aydogmus (Author), Arzu Babayigit Hocaoglu (Author), Merve Kilic (Author), Gul Demet Kaya (Author), Elif Yilmaz Gulec (Author)
• Format: Book
• Published: Hindawi Limited, 2014-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face,...