Search

Now showing items 1-1 of 1

Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency

Mayr, D; Langley, DB; Kuskonmaz, Baris; Uckan Çetinkaya, Duygu; Cagdas, Deniz; Barıs, S; Worley, I; Metin, A; Aytekin, E S; Atan, R; Kasap, N; Bal, S K; Dmytrus, J; Heredia, R J; Karasu, G; Torun, S H; Toyran, M; Karakoc-Aydiner, E; Christ, D; Uner, A; Oberndorfer, F; Schiefer, A I; Uzel, G; Deenick, E K; Keller, B; Warnatz, K; Neven, B (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, ...