reticular dysgenesis


reticular dysgenesis
the most severe form of severe combined immunodeficiency (q.v.), an autosomal recessive disorder caused by mutations in the AK2 gene (locus: 1p34), which encodes the mitochondrial isozyme adenylate kinase 2, resulting in absence of granulocytes, macrophages, and lymphocytes due to defective lymphocyte differentiation.

Medical dictionary. 2011.