Single cell transcriptome profiling of Reticular Dysgenesis patient bone marrow

Reticular Dysgenesis (RD) is a rare but devastating form of severe combined immunodeficiency, characterized by a maturation arrest of the myeloid and lymphoid lineages paired with sensorineural hearing loss. RD is caused by biallelic loss-of-function mutations in the mitochondrial enzyme adenylate kinase 2 (AK2). Understanding the gene expression impact of AK2 loss-of-function on a single cell level would not only allow us to develop rational therapies for RD and other mitochondrial diseases but enable us to reconstruct metabolic changes that occur during development and how they impact cell fate decisions. Single cell RNA-seq of CD45+ bone marrow cells from RD patients and a healthy donor.