Adenosine deaminase deficiency
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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 (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.[1][2]
Quick Facts Other names, Specialty ...
Adenosine deaminase deficiency | |
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Other names | ADA deficiency, ADA-SCID, and Severe combined immunodeficiency due to ADA deficiency |
Adenosine deaminase deficiency has an autosomal recessive pattern of inheritance. | |
Specialty | Immunology |
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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.[3] It occurs in fewer than one in 100,000 live births worldwide.