Browsing by Author "Cagdas, Deniz"

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Genomic spectrum and phenotypic heterogeneity of human IL-21 receptor deficiency

Cagdas, Deniz; Baris, Safa; Worley, Lisa; Langley, David B.; Metin, Ayse; Karasu, Gulsun (Springer, 2021)

Biallelic inactivating mutations in IL21R causes a combined immunodeficiency that is often complicated by cryptosporidium infections. While eight IL-21R-deficient patients have been reported previously, the natural course, ...
Mutational landscape of severe combined immunodeficiency patients from Turkey

Firtina, Sinem; Ng, Yuk Yin; Ng, Ozden Hatirnaz; Kiykim, Ayca; Aydiner, Elif; Nepesov, Serdar; Camcioglu, Yildiz; Sayar, Esra H.; Reisli, Ismail; Torun, Selda H.; Cogurlu, Tuba; Uygun, Dilara; Simsek, Isil E.; Kaya, Aysenur; Erol Cipe, Funda; Cagdas, Deniz; Yucel, Esra; Cekic, Sukru; Uygun, Vedat; Baris, Safa; Ozen, Ahmet; Ozbek, Ugur; Sayitoglu, Muge (Wiley, 2020)

Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation ...