Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

• Príomhchruthaitheoirí: Funda Erol Çipe (Údar), Cigdem Aydogmus (Údar), Arzu Babayigit Hocaoglu (Údar), Merve Kilic (Údar), Gul Demet Kaya (Údar), Elif Yilmaz Gulec (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: Hindawi Limited, 2014-01-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: 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,...