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Case Reports in Pediatrics
Volume 2014 (2014), Article ID 614238, 4 pages
Case Report

Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

1Department of Pediatric Allergy-Immunology, Kanuni Sultan Suleyman Research and Training Hospital, 34303 Istanbul, Turkey
2Department of Genetics, Kanuni Sultan Suleyman Research and Training Hospital, 34303 Istanbul, Turkey

Received 24 August 2013; Accepted 1 October 2013; Published 8 January 2014

Academic Editors: Y.-J. Lee and V. C. Wong

Copyright © 2014 Funda Erol Çipe et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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, recurrent perianal abscess, pancytopenia, and polydactyly. Firstly, she was thought as Fanconi anemia and spontaneous DNA breaks were seen on chromosomal analysis. After that DEB test was found to be normal and Fanconi anemia was excluded. Because of that she had low IgG and IgA levels, normal IgM level, and absence of B cells in peripheral blood; she was considered as primary immunodeficiency, Nijmegen breakage syndrome. A mutation in NBS1 gene was not found; then Cernunnos/XLF deficiency was investigated due to clinical similarities with previously reported cases. Homozygous mutation in Cernunnos/XLF gene (NHEJ1) was identified. She is now on regular IVIG prophylaxis and has no new infection. Fully matched donor screening is in progress for bone marrow transplantation which is curative treatment of the disease. In conclusion, the patients with microcephaly, bird-like face, and severe growth retardation should be evaluated for hypogammaglobulinemia and primary immunodeficiency diseases.