Type III Bare Lymphocyte Syndrome Associated with a Novel RFXAP Mutation: A Case Report
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Dosyalar
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
WILEY-BLACKWELL
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X-associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE-region at amino acid 73.
Açıklama
Anahtar Kelimeler
Kaynak
International Journal of Immunogenetics
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
39
Sayı
4
Künye
Göktürk, B., Artaç, H., van Eggermond, M. J., van den Elsen, P., Reisli, İ., (2012). Type III Bare Lymphocyte Syndrome Associated with a Novel RFXAP Mutation: A Case Report. International Journal of Immunogenetics, 39(4), 362-364. doi: 10.1111/j.1744-313X.2012.01105.x
