Back عوز نازعة أمين الأدينوزين Arabic ADA sindiromu Azerbaijani Nedostatak adenozin-deaminaze BS Hereditärer Adenosindesaminase-Mangel German Inmunodeficiencia combinada grave por déficit de adenosina desaminasa Spanish Déficit immunitaire combiné sévère par déficit en adénosine désaminase French Deficit di adenosina deaminasi Italian Niedobór deaminazy adenozynowej Polish 腺苷脱氨酶缺乏症 Chinese
| Adenosine deaminase deficiency | |
|---|---|
| Other names | ADA deficiency, ADA-SCID, and Severe combined immunodeficiency due to ADA deficiency |
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| 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.