Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated. The disease is Monarch Disease Ontology identifier MONDO_0009973 (reticular dysgenesis). Also known as: AK2 deficiency, De Vaal disease, SCID with leukopenia, congenital aleukocytosis, generalised haematopoietic hypoplasia, generalized hematopoietic hypoplasia, severe combined immunodeficiency with leukopenia.