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CernunnosXLF Deficiency : A Syndromic Primary Immunodeficiency
Joint Authors
Kaya, Gul Demet
Kilic, Merve
Babayigit Hocaoglu, Arzu
Aydoğmuş, Çiğdem
Çipe, Funda Erol
Yilmaz Gulec, Elif
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-01-08
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Çipe, Funda Erol& Aydoğmuş, Çiğdem& Babayigit Hocaoglu, Arzu& Kilic, Merve& Kaya, Gul Demet& Yilmaz Gulec, Elif. 2014. CernunnosXLF Deficiency : A Syndromic Primary Immunodeficiency. Case Reports in Pediatrics،Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-485213
Modern Language Association (MLA)
Çipe, Funda Erol…[et al.]. CernunnosXLF Deficiency : A Syndromic Primary Immunodeficiency. Case Reports in Pediatrics No. 2014 (2014), pp.1-4.
https://search.emarefa.net/detail/BIM-485213
American Medical Association (AMA)
Çipe, Funda Erol& Aydoğmuş, Çiğdem& Babayigit Hocaoglu, Arzu& Kilic, Merve& Kaya, Gul Demet& Yilmaz Gulec, Elif. CernunnosXLF Deficiency : A Syndromic Primary Immunodeficiency. Case Reports in Pediatrics. 2014. Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-485213
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-485213