Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder

Karaca, Ender; Karakoc-Aydiner, Elif; Bayrak, Omer; Keles, Sevgi; Sevli, Serhat; Barlan, Isil; Yuksel, Adnan; Chatila, Talal; Ozen, MUSTAFA

doi:10.1016/j.gene.2012.10.062

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder

Karaca E., Karakoc-Aydiner E., Bayrak O. F., Keles S., Sevli S., Barlan I. B., ...Daha Fazla

GENE, cilt.512, sa.2, ss.189-193, 2013 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 512 Sayı: 2
Basım Tarihi: 2013
Doi Numarası: 10.1016/j.gene.2012.10.062
Dergi Adı: GENE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.189-193
İstanbul Üniversitesi-Cerrahpaşa Adresli: Hayır

Özet

Protein tyrosine kinases (PTKs) play an important role in T cell development and activation. In vitro and in vivo defects, resulting in variable deficiencies in thymic development and in T cell antigen receptor (TCR) signal transduction, in PTKs have been shown. ZAP70, one of those PTKs, is a 70-kDa tyrosine phosphoprotein and associates with the chain zeta and undergoes tyrosine phosphorylation following TCR stimulation. It is expressed in T and natural killer (NK) cells. Several mutations were shown to lead to an autosomal recessive form of severe combined immunodeficiency disease (SCID).