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.
Medical condition
Adenosine deaminase deficiency
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
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]
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.
^Flinn AM, Gennery AR (April 2018). "Adenosine deaminase deficiency: a review". Orphanet Journal of Rare Diseases. 13 (1): 65. doi:10.1186/s13023-018-0807-5. PMC 5916829. PMID 29690908.
^Fischer A (2022). "Chapter 351: Primary Immune Deficiency Diseases". Harrison's Principles of Internal Medicine (21st ed.). McGraw Hill. ISBN 978-1264268504.
^Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS (October 1998). "Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles". American Journal of Human Genetics. 63 (4): 1049–1059. doi:10.1086/302054. PMC 1377486. PMID 9758612.
and 28 Related for: Adenosine deaminase deficiency information
Adenosinedeaminasedeficiency (ADA deficiency) is a metabolic disorder that causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts...
Adenosinedeaminase (also known as adenosine aminohydrolase, or ADA) is an enzyme (EC 3.5.4.4) involved in purine metabolism. It is needed for the breakdown...
Deficiency of Adenosinedeaminase 2 (DADA2) is a monogenic disease associated with systemic inflammation and vasculopathy that affects a wide variety...
Adenosine monophosphate deaminasedeficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase...
in coronary vasodilatation. Adenosine deaminasedeficiency is a known cause of immunodeficiency. The adenosine analog NITD008 has been reported to directly...
May 2021). "Autologous Ex Vivo Lentiviral Gene Therapy for AdenosineDeaminaseDeficiency". New England Journal of Medicine. 384 (21): 2002–2013. doi:10...
resulting from an adenosinedeaminasedeficiency (ADA-SCID). Other treatment options for patients with enzyme or protein deficiencies include substrate...
medication used to treat severe combined immunodeficiency due to adenosinedeaminasedeficiency (ADA-SCID). ADA-SCID is a rare inherited condition in which...
associated with adenosinedeaminasedeficiency, which classically manifests in severe combine immunodeficiency (SCID). Accumulated adenosine derivatives,...
an accumulation of uric acid crystals in various joints, and adenosinedeaminasedeficiency, which causes immunodeficiency. Once the nucleotides are synthesized...
4-year-old girl, named Ashanthi DeSilva, who was critically ill with adenosinedeaminasedeficiency severe combined immunodeficiency disease (ADA SCID). Preliminary...
with adenosinedeaminasedeficiency (ADA) tend to have elevated intracellular dATP concentrations because adenosinedeaminase normally curbs adenosine levels...
Revcovi, is a medication for the treatment of the rare disease adenosinedeaminasedeficiency-SCID in children and adults. It is a recombinant enzyme that...
first successfully demonstrated in late 1990/early 1991 for adenosinedeaminasedeficiency, though the treatment was somatic – that is, did not affect...
into IMP. (With the exception of AMP deaminasedeficiency, where ammonia is produced during exercise when adenosine, from AMP, is converted into inosine)...
see the link in the infobox on the right. ADA: AdenosineDeaminase (AdenosineDeaminaseDeficiency) ANDP: encoding protein Activity-dependent neuroprotector...
AMPD1 deficiency, also known as myoadenylate deaminasedeficiency, is a disorder in which the body produces insufficient AMP deaminase. adenosine monophosphate...
therapy, which has been used to treat X-linked SCID, SCID due to adenosinedeaminasedeficiency, and chronic granulomatous disease. Early detection and treatment...
deficiency of it leads to buildup of elevated deoxy-GTP (dGTP) levels resulting in T-cell toxicity and deficiency. In contrast to adenosinedeaminase...
patients with severe combined immunodeficiency rising from adenosinedeaminasedeficiency (ADA-SCID), although the development of leukemia in some ADA-SCID...
(2021-05-27). "Autologous Ex Vivo Lentiviral Gene Therapy for AdenosineDeaminaseDeficiency". The New England Journal of Medicine. 384 (21): 2002–2013....
Dennis A. Carson had studied adenosinedeaminasedeficiency and recognised that because the lack of adenosinedeaminase led to the destruction of B cell...
disorders such as severe combined immunodeficiency rising from adenosinedeaminasedeficiency (ADA-SCID), although the development of leukemia in some ADA-SCID...
Global Information
