Publication: Common variable immunodeficiency in a patient with neurofibromatosis
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Authors
Kılıç, Sara Şebnem
Authors
İlhan, Tezcan
Sanal, Özden
Ersoy, Feyzi
Advisor
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Wiley
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Abstract
Neurofibromatosis (NF) is characterized by increased pigmentation of the skin (café au lait spots) and skin tumors, partly of ectodermal and neural origin. There are seven distinct forms of NF and NF-1 is the most prevalent. The NF-1 is located at q11.2 on the long arm of chromosome 17. The syndrome of NF-1 affects 1 in 4000 persons.
Common variable immunodeficiency (CVID) refers to an immunogically heterogeneous group of disorders characterized by a generalized failure of antibody synthesis. Affected individuals are prone to recurrent bacterial infections, especially involving the upper and lower respiratory bacterial infections, autoimmune, gastrointestinal, neoplastic and inflammatory disorders.
To our knowledge no cases have been reported in which neurofibromatosis coexists with hypogammaglobulinemia. Wille et al. reported a patient with neurofibromatosis and biclonal gammopathy.
In this paper we report a male patient with neurofibromatosis who had common variable immunodeficiency.
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Keywords
Common variable immunodeficiency, Immunodeficiency, Neurofibroma, Neurofibromatosis, Pediatrics
Citation
Kılıç, S. vd. (2001). "Common variable immunodeficiency in a patient with neurofibromatosis". Pediatrics International, 43(6), 691-693.