Adenosine deaminase deficiency

Adenosine deaminase deficiency (ADA deficiency) is a metabolic disorder that causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts for about 10–20% of all cases of autosomal recessive forms of severe combined immunodeficiency (SCID) after excluding disorders related to inbreeding.

This article is about a metabolic disorder caused by ADA gene mutations. For the vasculitis syndrome caused by ADA2 gene mutations, see Adenosine deaminase 2 deficiency.
Adenosine deaminase deficiency
Other namesADA deficiency, ADA-SCID, and Severe combined immunodeficiency due to ADA deficiency
Adenosine deaminase deficiency has an autosomal recessive pattern of inheritance.
SpecialtyImmunology 

ADA deficiency can present in infancy, childhood, adolescence, or adulthood. Age of onset and severity is related to some 29 known genotypes associated with the disorder. It occurs in fewer than one in 100,000 live births worldwide.

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