Bone marrow transplantation for monoallelic signal transducer and activator of transcription 1 deficiency

STAT1 protein expression and phosphorylation were found to be reduced in the patients' T cells, but increased in EBV-transformed lymphoblasts.4 At age 7 years, the patient received unmanipulated bone marrow HSCT from his HLA-identical brother who had normal STAT1 gene sequencing and normal immune function. The patient suffered recurrent infections as well as stunted growth, yet he had not yet developed severe organ damage nor was he affected by infections such as EBV or CMV that would complicate conditioning and transplantation outcome. [...]the patient had an optimal HLA-identical donor, which is associated with reduced frequency and severity of GvHD and improved HSCT outcome.