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Deficiency of adenosine deaminase 2(DADA2)

MedGen UID:
927526
Concept ID:
C4289994
Disease or Syndrome
Synonyms: ADA2 deficiency; DADA2 deficiency of adenosine deaminase 2; deficiency of adenosine deaminase 2; VAIHS vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome; vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
SNOMED CT: Adenosine deaminase 2 deficiency (987840791000119102); ADA2 (adenosine deaminase 2) deficiency (987840791000119102)
 
Monarch Initiative: MONDO:0100317
OMIM®: 615688

Definition

A disorder characterized by abnormal inflammation of various tissues, particularly the blood vessels, with intermittent. fevers, areas of net-like, mottled skin discoloration (livedo racemosa), hepatosplenomegaly, and recurrent strokes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of adenosine deaminase 2

Professional guidelines

PubMed

Grim A, Veiga KR, Saad N
Rheum Dis Clin North Am 2023 Nov;49(4):773-787. Epub 2023 Aug 1 doi: 10.1016/j.rdc.2023.06.004. PMID: 37821195
Zhang B, Xu N, Chen J, Zhang S, Huang X, Shen M, Zeng X
J Investig Allergol Clin Immunol 2021 Feb 21;32(1):13-22. Epub 2021 Sep 7 doi: 10.18176/jiaci.0748. PMID: 34489224
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

Recent clinical studies

Etiology

Karadag O, Bolek EC, Ayan G, Mohammad AJ, Grayson PC, Pagnoux C, Martín-Nares E, Monti S, Abe Y, Alberici F, Alibaz-Oner F, Cuthbertson D, Dagna L, Direskeneli H, Khalidi NA, Koening C, Langford CA, McAlear CA, Monach PA, Moroni L, Padoan R, Seo P, Warrington KJ, Hocevar A, Hinojosa-Azaola A, Furuta S, Emmi G, Ozen S, Jayne D, Merkel PA; GLOBAL‐PAN Collaborators
Arthritis Rheumatol 2024 Jul;76(7):1120-1129. Epub 2024 Feb 22 doi: 10.1002/art.42817. PMID: 38343337Free PMC Article
Sawhney S
Indian J Pediatr 2024 Oct;91(10):1056-1064. Epub 2023 Dec 15 doi: 10.1007/s12098-023-04958-2. PMID: 38100070
Putaala J
Continuum (Minneap Minn) 2020 Apr;26(2):386-414. doi: 10.1212/CON.0000000000000833. PMID: 32224758
Ozen S
Pediatr Nephrol 2019 Dec;34(12):2449-2456. Epub 2018 Dec 14 doi: 10.1007/s00467-018-4155-4. PMID: 30552566
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

Diagnosis

Grim A, Veiga KR, Saad N
Rheum Dis Clin North Am 2023 Nov;49(4):773-787. Epub 2023 Aug 1 doi: 10.1016/j.rdc.2023.06.004. PMID: 37821195
Bilginer Y, Ozen S
Curr Opin Pediatr 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. PMID: 35081554
Putaala J
Continuum (Minneap Minn) 2020 Apr;26(2):386-414. doi: 10.1212/CON.0000000000000833. PMID: 32224758
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
Lachmann HJ
Best Pract Res Clin Rheumatol 2017 Aug;31(4):596-609. Epub 2018 Jan 11 doi: 10.1016/j.berh.2017.12.001. PMID: 29773275

Therapy

Grim A, Veiga KR, Saad N
Rheum Dis Clin North Am 2023 Nov;49(4):773-787. Epub 2023 Aug 1 doi: 10.1016/j.rdc.2023.06.004. PMID: 37821195
Fraser S, Pabst L, Smith F
Curr Opin Neurol 2023 Apr 1;36(2):131-139. Epub 2023 Feb 10 doi: 10.1097/WCO.0000000000001145. PMID: 36762634
Hashem H, Bucciol G, Ozen S, Unal S, Bozkaya IO, Akarsu N, Taskinen M, Koskenvuo M, Saarela J, Dimitrova D, Hickstein DD, Hsu AP, Holland SM, Krance R, Sasa G, Kumar AR, Müller I, de Sousa MA, Delafontaine S, Moens L, Babor F, Barzaghi F, Cicalese MP, Bredius R, van Montfrans J, Baretta V, Cesaro S, Stepensky P, Benedicte N, Moshous D, Le Guenno G, Boutboul D, Dalal J, Brooks JP, Dokmeci E, Dara J, Lucas CL, Hambleton S, Wilson K, Jolles S, Koc Y, Güngör T, Schnider C, Candotti F, Steinmann S, Schulz A, Chambers C, Hershfield M, Ombrello A, Kanakry JA, Meyts I
J Clin Immunol 2021 Oct;41(7):1633-1647. Epub 2021 Jul 29 doi: 10.1007/s10875-021-01098-0. PMID: 34324127Free PMC Article
Sharma A, Naidu G, Sharma V, Jha S, Dhooria A, Dhir V, Bhatia P, Sharma V, Bhattad S, Chengappa KG, Gupta V, Misra DP, Chavan PP, Malaviya S, Dudam R, Sharma B, Kumar S, Bhojwani R, Gupta P, Agarwal V, Sharma K, Singhal M, Rathi M, Nada R, Minz RW, Chaturvedi V, Aggarwal A, Handa R, Grossi A, Gattorno M, Huang Z, Wang J, Jois R, Negi VS, Khubchandani R, Jain S, Arostegui JI, Chambers EP, Hershfield MS, Aksentijevich I, Zhou Q, Lee PY
Arthritis Rheumatol 2021 Feb;73(2):276-285. Epub 2020 Dec 26 doi: 10.1002/art.41500. PMID: 32892503Free PMC Article
Lachmann HJ
Best Pract Res Clin Rheumatol 2017 Aug;31(4):596-609. Epub 2018 Jan 11 doi: 10.1016/j.berh.2017.12.001. PMID: 29773275

Prognosis

Karadag O, Bolek EC, Ayan G, Mohammad AJ, Grayson PC, Pagnoux C, Martín-Nares E, Monti S, Abe Y, Alberici F, Alibaz-Oner F, Cuthbertson D, Dagna L, Direskeneli H, Khalidi NA, Koening C, Langford CA, McAlear CA, Monach PA, Moroni L, Padoan R, Seo P, Warrington KJ, Hocevar A, Hinojosa-Azaola A, Furuta S, Emmi G, Ozen S, Jayne D, Merkel PA; GLOBAL‐PAN Collaborators
Arthritis Rheumatol 2024 Jul;76(7):1120-1129. Epub 2024 Feb 22 doi: 10.1002/art.42817. PMID: 38343337Free PMC Article
Andriessen MVE, Legger GE, Bredius RGM, van Gijn ME, Hak AE, Muller PCEH, Kamphuis S, Klouwer FCC, Kuijpers TW, Leavis HL, Nierkens S, Rutgers A, van der Veken LT, van Well GTJ, Mulders-Manders CM, van Montfrans JM
J Clin Immunol 2023 Oct;43(7):1581-1596. Epub 2023 Jun 5 doi: 10.1007/s10875-023-01521-8. PMID: 37277582Free PMC Article
Bilginer Y, Ozen S
Curr Opin Pediatr 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. PMID: 35081554
Putaala J
Continuum (Minneap Minn) 2020 Apr;26(2):386-414. doi: 10.1212/CON.0000000000000833. PMID: 32224758
Ozen S, Acar-Ozen NP
Curr Opin Rheumatol 2017 Sep;29(5):530-534. doi: 10.1097/BOR.0000000000000424. PMID: 28582318

Clinical prediction guides

Karadag O, Bolek EC, Ayan G, Mohammad AJ, Grayson PC, Pagnoux C, Martín-Nares E, Monti S, Abe Y, Alberici F, Alibaz-Oner F, Cuthbertson D, Dagna L, Direskeneli H, Khalidi NA, Koening C, Langford CA, McAlear CA, Monach PA, Moroni L, Padoan R, Seo P, Warrington KJ, Hocevar A, Hinojosa-Azaola A, Furuta S, Emmi G, Ozen S, Jayne D, Merkel PA; GLOBAL‐PAN Collaborators
Arthritis Rheumatol 2024 Jul;76(7):1120-1129. Epub 2024 Feb 22 doi: 10.1002/art.42817. PMID: 38343337Free PMC Article
Andriessen MVE, Legger GE, Bredius RGM, van Gijn ME, Hak AE, Muller PCEH, Kamphuis S, Klouwer FCC, Kuijpers TW, Leavis HL, Nierkens S, Rutgers A, van der Veken LT, van Well GTJ, Mulders-Manders CM, van Montfrans JM
J Clin Immunol 2023 Oct;43(7):1581-1596. Epub 2023 Jun 5 doi: 10.1007/s10875-023-01521-8. PMID: 37277582Free PMC Article
Maccora I, Maniscalco V, Campani S, Carrera S, Abbati G, Marrani E, Mastrolia MV, Simonini G
Orphanet J Rare Dis 2023 May 13;18(1):117. doi: 10.1186/s13023-023-02721-6. PMID: 37179309Free PMC Article
Wang W, Zhang T, Zheng W, Zhong L, Wang L, Li J, Liu Q, Dong Y, Song H
Pediatr Rheumatol Online J 2021 Mar 23;19(1):44. doi: 10.1186/s12969-021-00535-z. PMID: 33757531Free PMC Article
Lee PY, Kellner ES, Huang Y, Furutani E, Huang Z, Bainter W, Alosaimi MF, Stafstrom K, Platt CD, Stauber T, Raz S, Tirosh I, Weiss A, Jordan MB, Krupski C, Eleftheriou D, Brogan P, Sobh A, Baz Z, Lefranc G, Irani C, Kilic SS, El-Owaidy R, Lokeshwar MR, Pimpale P, Khubchandani R, Chambers EP, Chou J, Geha RS, Nigrovic PA, Zhou Q
J Allergy Clin Immunol 2020 Jun;145(6):1664-1672.e10. Epub 2020 Jan 13 doi: 10.1016/j.jaci.2019.12.908. PMID: 31945408Free PMC Article

Recent systematic reviews

Maccora I, Maniscalco V, Campani S, Carrera S, Abbati G, Marrani E, Mastrolia MV, Simonini G
Orphanet J Rare Dis 2023 May 13;18(1):117. doi: 10.1186/s13023-023-02721-6. PMID: 37179309Free PMC Article
Fayand A, Chasset F, Boutboul D, Queyrel V, Tieulié N, Guichard I, Dupin N, Franck N, Cohen P, Bessis D, Guenno GL, Koné-Paut I, Belot A, Bonhomme A, Ducharme-Bénard S, Grateau G, Sarrabay G, Touitou I, Boursier G, Georgin-Lavialle S
Semin Arthritis Rheum 2021 Dec;51(6):1170-1179. Epub 2021 Sep 16 doi: 10.1016/j.semarthrit.2021.09.001. PMID: 34571400
Kasap Cuceoglu M, Sener S, Batu ED, Kaya Akca U, Demir S, Sag E, Atalay E, Balık Z, Basaran O, Bilginer Y, Ozen S
Semin Arthritis Rheum 2021 Jun;51(3):559-564. Epub 2021 Apr 19 doi: 10.1016/j.semarthrit.2021.04.009. PMID: 33901990

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