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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

Deuitch NT, Yang D, Lee PY, Yu X, Moura NS, Schnappauf O, Ombrello AK, Stone D, Kuehn HS, Rosenzweig SD, Hoffmann P, Cudrici C, Levy DM, Kessler E, Soep JB, Hay AD, Dalrymple A, Zhang Y, Sun L, Zhang Q, Tang X, Wu Y, Rao K, Li H, Luo H, Zhang Y, Burnham JM, Boehm M, Barron K, Kastner DL, Aksentijevich I, Zhou Q
J Allergy Clin Immunol 2022 May;149(5):1812-1816.e6. Epub 2021 Nov 12 doi: 10.1016/j.jaci.2021.10.030. PMID: 34780847
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

Li GM, Han X, Wu Y, Wang W, Tang HX, Lu MP, Tang XM, Lin Y, Deng F, Yang J, Wang XN, Liu CC, Zheng WJ, Wu BB, Zhou F, Luo H, Zhang L, Liu HM, Guan WZ, Wang SH, Tao PF, Jin TJ, Fang R, Wu Y, Zhang J, Zhang Y, Zhang TN, Yin W, Guo L, Tang WJ, Chang H, Zhang QY, Li XZ, Li JG, Zhou ZX, Yang SR, Yang KK, Xu H, Song HM, Deuitch NT, Lee PY, Zhou Q, Sun L
J Clin Immunol 2023 May;43(4):835-845. Epub 2023 Feb 18 doi: 10.1007/s10875-023-01432-8. PMID: 36807221Free PMC Article
Barron KS, Aksentijevich I, Deuitch NT, Stone DL, Hoffmann P, Videgar-Laird R, Soldatos A, Bergerson J, Toro C, Cudrici C, Nehrebecky M, Romeo T, Jones A, Boehm M, Kanakry JA, Dimitrova D, Calvo KR, Alao H, Kapuria D, Ben-Yakov G, Pichard DC, Hathaway L, Brofferio A, McRae E, Moura NS, Schnappauf O, Rosenzweig S, Heller T, Cowen EW, Kastner DL, Ombrello AK
Front Immunol 2021;12:811473. Epub 2022 Jan 10 doi: 10.3389/fimmu.2021.811473. PMID: 35095905Free PMC Article
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

Bilginer Y, Ozen S
Curr Opin Pediatr 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. PMID: 35081554
Pinto B, Deo P, Sharma S, Syal A, Sharma A
Clin Rheumatol 2021 Oct;40(10):3883-3896. Epub 2021 Mar 31 doi: 10.1007/s10067-021-05711-w. PMID: 33791889
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

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
Sozeri B, Ercan G, Dogan OA, Yıldız J, Demir F, Doğanay L
Rheumatol Int 2021 Jan;41(1):227-233. Epub 2019 Sep 20 doi: 10.1007/s00296-019-04444-z. PMID: 31541281
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

Bilginer Y, Ozen S
Curr Opin Pediatr 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. PMID: 35081554
Wu Z, Gao S, Watanabe N, Batchu S, Kajigaya S, Diamond C, Alemu L, Raffo DQ, Feng X, Hoffmann P, Stone D, Ombrello A, Young NS
J Leukoc Biol 2022 Feb;111(2):301-312. Epub 2021 Nov 3 doi: 10.1002/JLB.5A0621-314R. PMID: 34730257
Putaala J
Continuum (Minneap Minn) 2020 Apr;26(2):386-414. doi: 10.1212/CON.0000000000000833. PMID: 32224758
Santo GC, Baldeiras I, Guerreiro R, Ribeiro JA, Cunha R, Youngstein T, Nanthapisal S, Leitão J, Fernandes C, Caramelo F, Almeida MDR, Brás J, Santana I; Centro Hospitalar e Universitário de Coimbra
Cerebrovasc Dis 2018;46(5-6):257-264. Epub 2019 Jan 15 doi: 10.1159/000495794. PMID: 30645994
Ozen S, Acar-Ozen NP
Curr Opin Rheumatol 2017 Sep;29(5):530-534. doi: 10.1097/BOR.0000000000000424. PMID: 28582318

Clinical prediction guides

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
Wu Z, Gao S, Watanabe N, Batchu S, Kajigaya S, Diamond C, Alemu L, Raffo DQ, Feng X, Hoffmann P, Stone D, Ombrello A, Young NS
J Leukoc Biol 2022 Feb;111(2):301-312. Epub 2021 Nov 3 doi: 10.1002/JLB.5A0621-314R. PMID: 34730257
Barron KS, Aksentijevich I, Deuitch NT, Stone DL, Hoffmann P, Videgar-Laird R, Soldatos A, Bergerson J, Toro C, Cudrici C, Nehrebecky M, Romeo T, Jones A, Boehm M, Kanakry JA, Dimitrova D, Calvo KR, Alao H, Kapuria D, Ben-Yakov G, Pichard DC, Hathaway L, Brofferio A, McRae E, Moura NS, Schnappauf O, Rosenzweig S, Heller T, Cowen EW, Kastner DL, Ombrello AK
Front Immunol 2021;12:811473. Epub 2022 Jan 10 doi: 10.3389/fimmu.2021.811473. PMID: 35095905Free 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
Gibson KM, Morishita KA, Dancey P, Moorehead P, Drögemöller B, Han X, Graham J, Hancock REW, Foell D, Benseler S, Luqmani R, Yeung RSM, Shenoi S, Bohm M, Rosenberg AM, Ross CJ, Cabral DA, Brown KL; PedVas Investigators Network
Arthritis Rheumatol 2019 Oct;71(10):1747-1755. Epub 2019 Aug 26 doi: 10.1002/art.40913. PMID: 31008556

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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