Reticular dysgenesis
MONDO:0009973Reticular 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.
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Broader categories
Disease
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Hereditary disease
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Immune system disorder
(148)
Immunodeficiency disease
(54)
Severe combined immunodeficiency
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Human disease
(14)
Combined immunodeficiency
(3)
Disease of genetic or genomic mechanism
(2)
Disease by body system or component
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Disease by etiologic mechanism
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