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

doi:10.1007/s10875-021-01031-5

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Article

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

Journal of clinical immunology - 1 Aug 2021

Cagdas Deniz, Mayr Daniel, Baris Safa, Worley Lisa, Langley David B, Metin Ayse, Aytekin Elif Soyak, Atan Raziye, Kasap Nurhan, Bal Sevgi Köstel, Dmytrus Jasmin, Heredia Raul Jimenez, Karasu Gulsun, Torun Selda Hancerli, Toyran Muge, Karakoc-Aydiner Elif, Christ Daniel, Kuskonmaz Baris, Uçkan-Çetinkaya Duygu, Uner Aysegul, Oberndorfer Felicitas, Schiefer Ana-Iris, Uzel Gulbu, Deenick Elissa K, Keller Baerbel, Warnatz Klaus, Neven Bénédicte, Durandy Anne, Sanal Ozden, Ma Cindy S, Özen Ahmet, Stepensky Polina, Tezcan Ilhan, Boztug Kaan, Tangye Stuart G

Abstract excerpt

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, immune characteristics of disease, and response to hematopoietic stem cell transplantation (HSCT) remain to be comprehensively examined. In our study, we have collected clinical histories of 13...

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PMID: 33929673
DOI: 10.1007/s10875-021-01031-5
PMCID: PMC8086229

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