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Severe combined immunodeficiency due to adenosine deaminase deficiency

Disease ID:850
Name:Severe combined immunodeficiency due to adenosine deaminase deficiency
Associated with:1 target
Synonyms
ADA-SCID | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase
Description
ADA-SCID is an ultra-rare, inherited genetic disorder, caused adenosine deaminase (ADA) deficiency. Affected individuals experience recurrent and potentially life-threatening infections as their immune systems are severely compromised by the build up of toxic metabolites in the absence of ADA activity.
Database Links
Disease Ontology: DOID:5810
OMIM: 102700
Orphanet: ORPHA277

Targets

Adenosine deaminase
Role:  ADA-SCID is caused by a genetic deficiency in the adenosine deaminase enzyme. It is fatal if left untreated.
Drugs:  The US FDA approved an enzyme replacement therapy (ERT) for ADA-SCID in October 2018. This ERT contains the recombinant adenosine deaminase, elapegademase-lvlr and has the trade name Revcovi®.
Therapeutic use:  Elapegademase-lvlr can be administered to pediatric and adult patients.

Ligands

No ligand related data available for Severe combined immunodeficiency due to adenosine deaminase deficiency