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
17 clinical trials for this condition and its sub-types.
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Broader categories
Disease
(618)
Hereditary disease
(172)
Immune system disorder
(140)
Immunodeficiency disease
(48)
Severe combined immunodeficiency
(21)
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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