Reticular dysgenesis

MONDO:0009973

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, De Vaal disease, SCID with leukopenia, congenital aleukocytosis, generalised haematopoietic hypoplasia, generalized hematopoietic hypoplasia, reticular dysgenesis, severe combined immunodeficiency with leukopenia

3 clinical trials for this condition and its sub-types, 1 tagged with Reticular dysgenesis itself.

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Sub-types of Reticular dysgenesis

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