A rare case of acquired immunodeficiency associated with myelodysplastic syndrome.
Juanjuan LiJunhui LiJianguo LiHailan YaoFang LiuJames F GusellaXiaodong ShiXiaoli ChenPublished in: Molecular genetics & genomic medicine (2019)
The 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 pathogenic RAG1 mutation.