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Adenosine deaminase deficiency

MedGen UID:
120610
•Concept ID:
C0268124
•
Disease or Syndrome
Synonym: ADA Deficiency
SNOMED CT: ADA - Adenosine aminohydrolase deficiency (44940001); Deficiency of adenosine deaminase (44940001); Adenosine deaminase deficiency (44940001); ADA deficiency (44940001); Adenosine aminohydrolase deficiency (44940001)

Definition

An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdenosine deaminase deficiency

Professional guidelines

PubMed

Updated Management Guidelines for Adenosine Deaminase Deficiency.
Grunebaum E, Booth C, Cuvelier GDE, Loves R, Aiuti A, Kohn DB
J Allergy Clin Immunol Pract 2023 Jun;11(6):1665-1675. Epub 2023 Feb 1 doi: 10.1016/j.jaip.2023.01.032. PMID: 36736952
Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency.
Hartog N, Hershfield M, Michniacki T, Moloney S, Holsworth A, Hurden I, Fredrickson M, Kleyn M, Walkovich K, Secord E
Ann Allergy Asthma Immunol 2022 Dec;129(6):776-783.e2. Epub 2022 Jul 30 doi: 10.1016/j.anai.2022.07.016. PMID: 35914665
Gene Therapy for the Treatment of Primary Immune Deficiencies.
Kuo CY, Kohn DB
Curr Allergy Asthma Rep 2016 May;16(5):39. doi: 10.1007/s11882-016-0615-8. PMID: 27056559Free PMC Article

Recent clinical studies

Etiology

Childhood Vasculitis.
Sawhney S
Indian J Pediatr 2024 Oct;91(10):1056-1064. Epub 2023 Dec 15 doi: 10.1007/s12098-023-04958-2. PMID: 38100070
Juvenile-onset Behçet's syndrome and mimics.
Pain CE
Clin Immunol 2020 May;214:108381. Epub 2020 Mar 10 doi: 10.1016/j.clim.2020.108381. PMID: 32165216
Gene Therapy Approaches to Immunodeficiency.
Ghosh S, Gaspar HB
Hematol Oncol Clin North Am 2017 Oct;31(5):823-834. Epub 2017 Jun 29 doi: 10.1016/j.hoc.2017.05.003. PMID: 28895850
Human gene therapy.
Anderson WF
Science 1992 May 8;256(5058):808-13. doi: 10.1126/science.1589762. PMID: 1589762
Metaphyseal chondrodysplasia.
Spranger JW
Postgrad Med J 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480. PMID: 335375Free PMC Article

Diagnosis

Childhood Vasculitis.
Sawhney S
Indian J Pediatr 2024 Oct;91(10):1056-1064. Epub 2023 Dec 15 doi: 10.1007/s12098-023-04958-2. PMID: 38100070
Juvenile-onset Behçet's syndrome and mimics.
Pain CE
Clin Immunol 2020 May;214:108381. Epub 2020 Mar 10 doi: 10.1016/j.clim.2020.108381. PMID: 32165216
Diagnosis and management of ADA2 deficient polyarteritis nodosa.
Human A, Pagnoux C
Int J Rheum Dis 2019 Jan;22 Suppl 1:69-77. Epub 2018 Apr 6 doi: 10.1111/1756-185X.13283. PMID: 29624883
Actionable diagnosis of neuroleptospirosis by next-generation sequencing.
Wilson MR, Naccache SN, Samayoa E, Biagtan M, Bashir H, Yu G, Salamat SM, Somasekar S, Federman S, Miller S, Sokolic R, Garabedian E, Candotti F, Buckley RH, Reed KD, Meyer TL, Seroogy CM, Galloway R, Henderson SL, Gern JE, DeRisi JL, Chiu CY
N Engl J Med 2014 Jun 19;370(25):2408-17. Epub 2014 Jun 4 doi: 10.1056/NEJMoa1401268. PMID: 24896819Free PMC Article
Metaphyseal chondrodysplasia.
Spranger JW
Postgrad Med J 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480. PMID: 335375Free PMC Article

Therapy

Epigenetic therapy induces transcription of inverted SINEs and ADAR1 dependency.
Mehdipour P, Marhon SA, Ettayebi I, Chakravarthy A, Hosseini A, Wang Y, de Castro FA, Loo Yau H, Ishak C, Abelson S, O'Brien CA, De Carvalho DD
Nature 2020 Dec;588(7836):169-173. Epub 2020 Oct 21 doi: 10.1038/s41586-020-2844-1. PMID: 33087935
Gene Therapy Approaches to Immunodeficiency.
Ghosh S, Gaspar HB
Hematol Oncol Clin North Am 2017 Oct;31(5):823-834. Epub 2017 Jun 29 doi: 10.1016/j.hoc.2017.05.003. PMID: 28895850
Evolving Gene Therapy in Primary Immunodeficiency.
Thrasher AJ, Williams DA
Mol Ther 2017 May 3;25(5):1132-1141. Epub 2017 Mar 31 doi: 10.1016/j.ymthe.2017.03.018. PMID: 28366768Free PMC Article
T-cell gene therapy.
Hege KM, Roberts MR
Curr Opin Biotechnol 1996 Dec;7(6):629-34. doi: 10.1016/s0958-1669(96)80074-7. PMID: 8939644
Human gene therapy.
Anderson WF
Science 1992 May 8;256(5058):808-13. doi: 10.1126/science.1589762. PMID: 1589762

Prognosis

Rare primary vasculitis: update on multiple complex diseases and the new kids on the block.
Dantas JG, Biegelmeyer E, Zarur EB, Pinheiro FAG
Adv Rheumatol 2024 Oct 9;64(1):79. doi: 10.1186/s42358-024-00421-8. PMID: 39385260
Polyarteritis nodosa.
Bilginer Y, Ozen S
Curr Opin Pediatr 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. PMID: 35081554
Busulfan Pharmacokinetics in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Gene Therapy.
Bradford KL, Liu S, Krajinovic M, Ansari M, Garabedian E, Tse J, Wang X, Shaw KL, Gaspar HB, Candotti F, Kohn DB
Biol Blood Marrow Transplant 2020 Oct;26(10):1819-1827. Epub 2020 Jul 9 doi: 10.1016/j.bbmt.2020.07.004. PMID: 32653625Free PMC Article
Diagnosis and management of ADA2 deficient polyarteritis nodosa.
Human A, Pagnoux C
Int J Rheum Dis 2019 Jan;22 Suppl 1:69-77. Epub 2018 Apr 6 doi: 10.1111/1756-185X.13283. PMID: 29624883
History of gene therapy.
Wirth T, Parker N, Ylä-Herttuala S
Gene 2013 Aug 10;525(2):162-9. Epub 2013 Apr 23 doi: 10.1016/j.gene.2013.03.137. PMID: 23618815

Clinical prediction guides

Gene therapy for severe combined immunodeficiencies and beyond.
Fischer A, Hacein-Bey-Abina S
J Exp Med 2020 Jan 6;217(2) doi: 10.1084/jem.20190607. PMID: 31826240Free PMC Article
Diagnosis and management of ADA2 deficient polyarteritis nodosa.
Human A, Pagnoux C
Int J Rheum Dis 2019 Jan;22 Suppl 1:69-77. Epub 2018 Apr 6 doi: 10.1111/1756-185X.13283. PMID: 29624883
Gene therapy of primary T cell immunodeficiencies.
Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M
Gene 2013 Aug 10;525(2):170-3. Epub 2013 Apr 10 doi: 10.1016/j.gene.2013.03.092. PMID: 23583799
Gene therapy: progress in childhood disease.
Ginn SL, Alexander IE
J Paediatr Child Health 2012 Jun;48(6):466-71. Epub 2011 Oct 21 doi: 10.1111/j.1440-1754.2011.02204.x. PMID: 22017270
Hematopoietic stem cell gene therapy with drug resistance genes: an update.
Budak-Alpdogan T, Banerjee D, Bertino JR
Cancer Gene Ther 2005 Nov;12(11):849-63. doi: 10.1038/sj.cgt.7700866. PMID: 16037821

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