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Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency
(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, ...
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis
(2022-03)
Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative
treatment for patients affected by Wiskott-Aldrich syndrome (WAS). Reported HSCT
outcomes have improved over time with respect to overall ...