Browsing WoS İndeksli Yayınlar Koleksiyonu by Author "Langley, David B."

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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, ...