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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
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS
Am J Hum Genet 1998 Oct;63(4):1049-59. doi: 10.1086/302054. PMID: 9758612Free 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
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.
Meyts I, Aksentijevich I
J Clin Immunol 2018 Jul;38(5):569-578. Epub 2018 Jun 27 doi: 10.1007/s10875-018-0525-8. PMID: 29951947Free PMC Article
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
Lymphocyte gene therapy.
Culver KW, Anderson WF, Blaese RM
Hum Gene Ther 1991 Summer;2(2):107-9. doi: 10.1089/hum.1991.2.2-107. PMID: 1911929

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
Polyarteritis nodosa.
Bilginer Y, Ozen S
Curr Opin Pediatr 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. PMID: 35081554
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.
Meyts I, Aksentijevich I
J Clin Immunol 2018 Jul;38(5):569-578. Epub 2018 Jun 27 doi: 10.1007/s10875-018-0525-8. PMID: 29951947Free PMC Article
Adenosine deaminase deficiency: a review.
Flinn AM, Gennery AR
Orphanet J Rare Dis 2018 Apr 24;13(1):65. doi: 10.1186/s13023-018-0807-5. PMID: 29690908Free PMC Article
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

Therapy

ADAR1: from basic mechanisms to inhibitors.
Rehwinkel J, Mehdipour P
Trends Cell Biol 2025 Jan;35(1):59-73. Epub 2024 Jul 18 doi: 10.1016/j.tcb.2024.06.006. PMID: 39030076Free PMC Article
Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency.
Kohn DB, Booth C, Shaw KL, Xu-Bayford J, Garabedian E, Trevisan V, Carbonaro-Sarracino DA, Soni K, Terrazas D, Snell K, Ikeda A, Leon-Rico D, Moore TB, Buckland KF, Shah AJ, Gilmour KC, De Oliveira S, Rivat C, Crooks GM, Izotova N, Tse J, Adams S, Shupien S, Ricketts H, Davila A, Uzowuru C, Icreverzi A, Barman P, Campo Fernandez B, Hollis RP, Coronel M, Yu A, Chun KM, Casas CE, Zhang R, Arduini S, Lynn F, Kudari M, Spezzi A, Zahn M, Heimke R, Labik I, Parrott R, Buckley RH, Reeves L, Cornetta K, Sokolic R, Hershfield M, Schmidt M, Candotti F, Malech HL, Thrasher AJ, Gaspar HB
N Engl J Med 2021 May 27;384(21):2002-2013. Epub 2021 May 11 doi: 10.1056/NEJMoa2027675. PMID: 33974366Free PMC Article
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
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
Severe combined immunodeficiency diagnosis and genetic defects.
Aranda CS, Gouveia-Pereira MP, da Silva CJM, Rizzo MCFV, Ishizuka E, de Oliveira EB, Condino-Neto A
Immunol Rev 2024 Mar;322(1):138-147. Epub 2024 Jan 29 doi: 10.1111/imr.13310. PMID: 38287514
Polyarteritis nodosa.
Bilginer Y, Ozen S
Curr Opin Pediatr 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. PMID: 35081554
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I
N Engl J Med 2014 Mar 6;370(10):911-20. Epub 2014 Feb 19 doi: 10.1056/NEJMoa1307361. PMID: 24552284Free PMC Article
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
Calpain-dependent disruption of nucleo-cytoplasmic transport in ALS motor neurons.
Yamashita T, Aizawa H, Teramoto S, Akamatsu M, Kwak S
Sci Rep 2017 Jan 3;7:39994. doi: 10.1038/srep39994. PMID: 28045133Free PMC Article
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I
N Engl J Med 2014 Mar 6;370(10):911-20. Epub 2014 Feb 19 doi: 10.1056/NEJMoa1307361. PMID: 24552284Free PMC Article
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

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