Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report
Küçük Resim Yok
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Wiley-Blackwell
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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
[Keyword Not Available]
Kaynak
International Journal Of Immunogenetics
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
39
Sayı
4
