ADA-SCID

One particular kind of SCID, called adenosine deaminase deficiency (ADA)-SCID, is caused by lack of an enzyme (a protein in the body that helps break down other chemicals). Patients with ADA-SCID typically have very low T-cells, B ...1

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Symptoms of ADA-SCID

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of ADA-SCID

Another form of SCID is caused by a deficiency of the enzyme adenosine deaminase (ADA), normally produced by a gene on chromosome 20. ...Source: NHGRI (NIH)2 ...

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Treatments: ADA-SCID

People afflicted with this disease often have to take antibiotics and supplemental infusions of antibodies to protect themselves from serious infections. They can also receive adenosine deaminase injections given once or twice a week. ...Source: NHGRI (NIH)3 ...

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Names and Terminology

Synonyms: ADA deficiency ; ADA-SCID ; Adenosine Deaminase Deficiency ; Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease (SCID) ; Adenosine deaminase deficient severe combined immunodeficiency ; SCID DUE TO ADA DEFICIENCY ...4

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References

  1. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ pidtc/ Learn-More/ Therapies/ Gene-Therapy
  2. Source: NHGRI (NIH): genome.gov/ 13014325/ learning-about-severe-combined-immunodeficiency-scid/ 
  3. ibid.
  4. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1863236/ 

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