Marina Cavazzana-Calvo and colleagues report mutations in the gene encoding mitochondrial adenylate kinase 2 in reticular dysgenesis, the most severe form of inborn combined immunodeficiency, characterized by the absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood.
- Chantal Lagresle-Peyrou
- Emmanuelle M Six
- Marina Cavazzana-Calvo
