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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

Sawhney S
Indian J Pediatr 2024 Oct;91(10):1056-1064. Epub 2023 Dec 15 doi: 10.1007/s12098-023-04958-2. PMID: 38100070
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
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
Schwartz DM, Kitakule MM, Dizon BL, Gutierrez-Huerta C, Blackstone SA, Burma AM, Son A, Deuitch N, Rosenzweig S, Komarow H, Stone DL, Jones A, Nehrebecky M, Hoffmann P, Romeo T, de Jesus AA, Alehashemi S, Garg M, Torreggiani S, Montealegre Sanchez GA, Honer K, Souto Adeva G, Barron KS, Aksentijevich I, Ombrello AK, Goldbach-Mansky R, Kastner DL, Milner JD, Frischmeyer-Guerrerio P
Ann Rheum Dis 2021 Jun;80(6):788-795. Epub 2021 Feb 22 doi: 10.1136/annrheumdis-2020-219137. PMID: 33619160Free 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

Fonollosa A, Pelegrín L, García-Morillo S, Buján-Rivas S, Distefano L, Robles-Maruenda A, Fernández-Martín J, González-García A, Garcia-Aparicio Á, Ortego-Centeno N, Llorenç V, Sainz de la Maza M, Pinedo C, Sopeña B, Cocho L, Carreño E, Blanco R, Antón J, Pérez-Quintana M, Marques-Soares JR, Artaraz J, Ruiz-Arruza I, Soto-Peleteiro A, Gómez-Caverzaschi V, Araújo O, Espinosa G, Adan A, Fabiani C, Cantarini L, Hernández-Rodríguez J; Spanish Society of Ocular Inflammation (SEIOC) and the AutoInflammatory Diseases Alliance (AIDA) Network
Clin Exp Rheumatol 2023 Oct;41(10):2105-2114. Epub 2023 Sep 28 doi: 10.55563/clinexprheumatol/ukegcc. PMID: 37812477
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
Chen L, Mamutova A, Kozlova A, Latysheva E, Evgeny F, Latysheva T, Savostyanov K, Pushkov A, Zhanin I, Raykina E, Kurnikova M, Mersiyanova I, Platt CD, Jee H, Brodeur K, Du Y, Liu M, Weiss A, Schulert GS, Rodriguez-Smith J, Hershfield MS, Aksentijevich I, Zhou Q, Nigrovic PA, Shcherbina A, Alexeeva E, Lee PY
J Allergy Clin Immunol 2023 Sep;152(3):771-782. Epub 2023 May 5 doi: 10.1016/j.jaci.2023.04.014. PMID: 37150360
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

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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