Reticular dysgensis; Overview on the pathophysiology, clinical manifestations, investigations, laboratory findings, treatments and future perspectives

Reticular dysgenesis is the most severe form of severe combined immunodeficiency, that is associated with agranulocytosis as part of the disease, which is unresponsive to GCSF. The disease is inherited as autosomal recessive disorder due to genetic mutation of adenylate kinase 2. It is the first described inherited mitochondriopathy disorder that cause primary immunodeficiency and bilateral sensorineural deafness. The disease is lethal in infancy, and those patients are at high risk for infections as the leading cause of death. The only curative therapy of choice is Hematopoietic Stem Cell Transplantation, if HLA match donor is readily available.