A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)

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. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014 Mar;370(6):911–20. https://doi.org/10.1056/NEJMoa1307361. Epub 2014 Feb 19. PMID: 24552284; PMCID: PMC4193683.

Gao ZW, Yang L, Liu C, Wang X, Guo WT, Zhang HZ, Dong K. Distinct roles of Adenosine Deaminase Isoenzymes ADA1 and ADA2: a Pan-Cancer Analysis. Front Immunol. 2022 May;18:13:903461. https://doi.org/10.3389/fimmu.2022.903461. PMID: 35663977; PMCID: PMC9157497.

Kaljas Y, Liu C, Skaldin M, Wu C, Zhou Q, Lu Y, Aksentijevich I, Zavialov AV. Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells. Cell Mol Life Sci. 2017 Feb;74(3):555–70. Epub 2016 Sep 23. PMID: 27663683.

Ehlers L, Meyts I. What a difference ADA2 makes: insights into the pathophysiology of ADA2 deficiency from single-cell RNA sequencing of monocytes. J Leukoc Biol. 2021 Sep;110(3):405–7. https://doi.org/10.1002/JLB.5CE0421-186R. Epub 2021 Jun 16. PMID: 34137068.

Carmona-Rivera C, Khaznadar SS, Shwin KW, Irizarry-Caro JA, O’Neil LJ, Liu Y, Jacobson KA, Ombrello AK, Stone DL, Tsai WL, Kastner DL, Aksentijevich I, Kaplan MJ, Grayson PC. Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2. Blood 2019 Jul 25;134(4):395–406. doi: https://doi.org/10.1182/blood.2018892752. Epub 2019 Apr 23. PMID: 31015188; PMCID: PMC6659253.

Insalaco A, Moneta GM, Pardeo M, Caiello I, Messia V, Bracaglia C, Passarelli C, De Benedetti F. Variable clinical phenotypes and relation of Interferon signature with Disease Activity in ADA2 Deficiency. J Rheumatol. 2019 May;46(5):523–6. https://doi.org/10.3899/jrheum.180045. Epub 2019 Jan 15. PMID: 30647181.

Watanabe N, Gao S, Wu Z, Batchu S, Kajigaya S, Diamond C, Alemu L, Raffo DQ, Hoffmann P, Stone D, Ombrello AK, Young NS. Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes. J Leukoc Biol 2021 Sep;110(3):409–24. doi: https://doi.org/10.1002/JLB.3HI0220-119RR. Epub 2021 May 14. PMID: 33988272.

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. The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort. Front Immunol 2022 Jan 10;12:811473. doi: https://doi.org/10.3389/fimmu.2021.811473. PMID: 35095905; PMCID: PMC8790931.

Pilania RK, Banday AZ, Sharma S, Kumrah R, Joshi V, Loganathan S, Dhaliwal M, Jindal AK, Vignesh P, Suri D, Rawat A, Singh S. Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist. Front Immunol 2022 May 3;13:869570. doi: https://doi.org/10.3389/fimmu.2022.869570. PMID: 35592317; PMCID: PMC9110783.

Alsultan A, Basher E, Alqanatish J, Mohammed R, Alfadhel M. Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. Pediatr Blood Cancer. 2018 Apr;65(4). https://doi.org/10.1002/pbc.26912. Epub 2017 Dec 22. PMID: 29271561.

Alabbas F, Elyamany G, Alsharif O, Hershfield M, Meyts I. Childhood Hodgkin Lymphoma: think DADA2. J Clin Immunol. 2019 Jan;39(1):26–9. https://doi.org/10.1007/s10875-019-0590-7. Epub 2019 Jan 14. PMID: 30644014.

Aksentijevich I, Sampaio Moura N, Barron K. Adenosine Deaminase 2 Deficiency. 2019 Aug 8. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 31393689.

Ferriani MPL, Valera ET, de Sousa GR, Sandrin-Garcia P, de Moura RR, Hershfield MS, de Carvalho LM. ADA2 deficiency (DADA2) associated with Evans syndrome and a severe ADA2 genotype. Rheumatology (Oxford). 2021 Jul 1;60(7):e237-e239. doi: https://doi.org/10.1093/rheumatology/keab011. PMID: 33493352.

Chong-Neto HJ, Segundo GRS, Bandeira M, Chong-Silva DC, Rosário CS, Riedi CA, Hershfield MS, Ochs H, Torgerson T, Rosário NA. Homozygous splice ADA2 gene mutation causing ADA-2 Deficiency. J Clin Immunol. 2019 Nov;39(8):842–5. https://doi.org/10.1007/s10875-019-00697-2. Epub 2019 Oct 15. PMID: 31617030.

Poswar Fde O, da Fonseca RM, de Albuquerque LC, Zhou Q, Jardim LB, Monte TL, Aksentijevich I, Saute JA. Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis. J Neurol. 2016 Apr;263(4):818–20. Epub 2016 Feb 25. PMID: 26914925.

Jee H, Huang Z, Baxter S, Huang Y, Taylor ML, Henderson LA, Rosenzweig S, Sharma A, Chambers EP, Hershfield MS, Zhou Q, Dedeoglu F, Aksentijevich I, Nigrovic PA, O’Donnell-Luria A, Lee PY. Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach. J Allergy Clin Immunol. 2022 Jan;149(1):379–87. Epub 2021 May 15. PMID: 34004258; PMCID: PMC8591146.

Abbasi A, Batllori M, Gil-Sáez FJ, Rodríguez-Pintó I, Antón López J, Iglesias Jímenez E. Importance of the determination of enzymatic activity in the diagnosis of deficiency of adenosine deaminase 2 (DADA2). Med Clin (Barc). 2022 Sep 23;159(6):283–286. English, Spanish. doi: https://doi.org/10.1016/j.medcli.2021.12.020. Epub 2022 Feb 28. PMID: 35241284.

Schepp J, Proietti M, Frede N, Buchta M, Hübscher K, Rojas Restrepo J, Goldacker S, Warnatz K, Pachlopnik Schmid J, Duppenthaler A, Lougaris V, Uriarte I, Kelly S, Hershfield M, Grimbacher B. Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. Arthritis Rheumatol. 2017 Aug;69(8):1689–1700. doi: https://doi.org/10.1002/art.40147. Epub 2017 Jul 5. PMID: 28493328.

Luo W, Dong L, Chen F, Lei W, He L, Zhou Q, Lamy T, Zavialov AV. ELISA based assays to measure adenosine deaminases concentration in serum and saliva for the diagnosis of ADA2 deficiency and cancer. Front Immunol 2022 Jul 28;13:928438. doi: https://doi.org/10.3389/fimmu.2022.928438. PMID: 35967411; PMCID: PMC9366848.

Ito M, Nihira H, Izawa K, Yasumi T, Nishikomori R, Iwaki-Egawa S. Enzyme activity in dried blood spot as a diagnostic tool for adenosine deaminase 2 deficiency. Anal Biochem. 2021 Sep 1;628:114292. doi: https://doi.org/10.1016/j.ab.2021.114292. Epub 2021 Jun 24. PMID: 34171384.

Poursharifi P, Saghiri R, Ebrahimi-Rad M, Nazem H, Pourpak Z, Moin M, Shams S. Adenosine deaminase in patients with primary immunodeficiency syndromes: the analysis of serum ADA1 and ADA2 activities. Clin Biochem. 2009 Sep;42(13–14):1438–43. https://doi.org/10.1016/j.clinbiochem.2008.10.019. Epub 2008 Nov 8. PMID: 19026999.

Franco-Martínez L, Tecles F, Torres-Cantero A, Bernal E, San Lázaro I, Alcaraz MJ, Vicente-Romero MR, Lamy E, Sánchez-Resalt C, Rubio CP, Tvarijonaviciute A, Martínez-Subiela S, Cerón JJ. Analytical validation of an automated assay for the measurement of adenosine deaminase (ADA) and its isoenzymes in saliva and a pilot evaluation of their changes in patients with SARS-CoV-2 infection. Clin Chem Lab Med. 2021 Apr 28;59(9):1592–1599. doi: https://doi.org/10.1515/cclm-2021-0324. PMID: 33908223.

Bowers SM, Gibson KM, Cabral DA, Brown KL. Adenosine deaminase 2 activity negatively correlates with age during childhood. Pediatr Rheumatol Online J 2020 Jul 10;18(1):54. doi: https://doi.org/10.1186/s12969-020-00446-5. PMID: 32650798; PMCID: PMC7350767.

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. Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2). J Allergy Clin Immunol. 2020 Jun;145(6):1664–1672e10. Epub 2020 Jan 13. PMID: 31945408; PMCID: PMC7282972.

Naslavsky MS, Scliar MO, Yamamoto GL, Wang JYT, Zverinova S, Karp T, Nunes K, Ceroni JRM, de Carvalho DL, da Silva Simões CE, Bozoklian D, Nonaka R, Dos Santos Brito Silva N, da Silva Souza A, de Souza Andrade H, Passos MRS, Castro CFB, Mendes-Junior CT, Mercuri RLV, Miller TLA, Buzzo JL, Rego FO, Araújo NM, Magalhães WCS, Mingroni-Netto RC, Borda V, Guio H, Rojas CP, Sanchez C, Caceres O, Dean M, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E, Meyer D, Galante PAF, Guryev V, Castelli EC, Duarte YAO, Passos-Bueno MR, Zatz M. Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil. Nat Commun. 2022 Mar 4;13(1):1004. doi: https://doi.org/10.1038/s41467-022-28648-3. Erratum in: Nat Commun. 2022 Mar 30;13(1):1831. PMID: 35246524; PMCID: PMC8897431.

Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, Romeo T, Barham B, Pinto-Patarroyo G, Toro C, Soldatos A, Zhou Q, Deuitch N, Aksentijevich I, Sheldon SL, Kelly S, Man A, Barron K, Hershfield M, Flegel WA, Kastner DL. Treatment Strategies for Deficiency of Adenosine Deaminase 2. N Engl J Med. 2019 Apr 18;380(16):1582–1584. doi: https://doi.org/10.1056/NEJMc1801927. PMID: 30995379; PMCID: PMC7372950.

Meyts I, Aksentijevich I. Deficiency of Adenosine Deaminase 2 (DADA2): updates on the phenotype, Genetics, Pathogenesis, and treatment. J Clin Immunol. 2018 Jul;38(5):569–78. https://doi.org/10.1007/s10875-018-0525-8. Epub 2018 Jun 27. PMID: 29951947; PMCID: PMC6061100.

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. Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. J Clin Immunol. 2021 Oct;41(7):1633–1647. doi: https://doi.org/10.1007/s10875-021-01098-0. Epub 2021 Jul 29. Erratum in: J Clin Immunol. 2022 Oct;42(7):1580–1581. PMID: 34324127; PMCID: PMC8452581.

Hong Y, Casimir M, Houghton BC, Zhang F, Jensen B, Omoyinmi E, Torrance R, Papadopoulou C, Cummins M, Roderick M, Thrasher AJ, Brogan PA, Eleftheriou D. Lentiviral Mediated ADA2 Gene Transfer Corrects the Defects Associated With Deficiency of Adenosine Deaminase Type 2. Front Immunol 2022 Apr 22;13:852830. doi: https://doi.org/10.3389/fimmu.2022.852830. PMID: 35529868; PMCID: PMC9073084.

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