A rare case of acquired immunodeficiency associated with myelodysplastic syndrome

ConclusionThe hematological phenotype, somatic genomic instability, and response to HSCT MAC but not HSCT RIC deduced to a diagnosis of MDS type refractory cytopenia of children in this patient. His immunodeficiency was secondary to MDS due to somatic acquisition of homozygosity for known pathogenicRAG1 mutation.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.923?af=R

Source: Molecular Genetics & Genomic Medicine - September 9, 2019 Category: Genetics & Stem Cells Authors: Juanjuan Li, Junhui Li, Jianguo Li, Hailan Yao, Fang Liu, James F Gusella, Xiaodong Shi, Xiaoli Chen Tags: ORIGINAL ARTICLE Source Type: research