Reticular dysgenesis
Reticular dysgenesis
Definition
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.
Also known as AK2 deficiency, congenital aleukocytosis, De Vaal disease, generalised haematopoietic hypoplasia, generalized hematopoietic hypoplasia, reticular dysgenesis, SCID with leukopenia, severe combined immunodeficiency with leukopenia — per MONDO