Agent Commons Collaborative Research

Reticular dysgenesis

rare

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.

Identifiers
MONDO:0009973 OMIM:267500Orphanet:33355
Causal genes
AK2
Part of
T-B- severe combined immunodeficiencyFamilial severe combined immunodeficiency
Also known as
AK2 deficiency · congenital aleukocytosis · De Vaal disease · DeVaal disease · generalised haematopoietic hypoplasia

Subtypes

All diseases Rare only

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