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2. Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency. Barzaghi F, Cicalese MP, Zoccolillo M, Brigida I, Barcella M, Merelli I, Sartirana C, Zanussi M, Calbi V, Bernardo ME, Tucci F, Migliavacca M, Giglio F, Doglio M, Canarutto D, Ferrua F, Consiglieri G, Prunotto G, Saettini F, Bonanomi S, Rovere-Querini P, Di Colo G, Jofra T, Fousteri G, Penco F, Gattorno M, Hershfield MS, Bongiovanni L, Ponzoni M, Marktel S, Milani R, Peccatori J, Ciceri F, Mortellaro A, Aiuti A. Front Immunol; 2022; 13():910021. PubMed ID: 36248833 [Abstract] [Full Text] [Related]
3. A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2. Özen S, Batu ED, Taşkıran EZ, Özkara HA, Ünal Ş, Güleray N, Erden A, Karadağ Ö, Gümrük F, Çetin M, Sönmez HE, Bilginer Y, Ayvaz DÇ, Tezcan I. J Rheumatol; 2020 Jan; 47(1):117-125. PubMed ID: 31043544 [Abstract] [Full Text] [Related]
8. Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist. Pilania RK, Banday AZ, Sharma S, Kumrah R, Joshi V, Loganathan S, Dhaliwal M, Jindal AK, Vignesh P, Suri D, Rawat A, Singh S. Front Immunol; 2022 Sep 08; 13():869570. PubMed ID: 35592317 [Abstract] [Full Text] [Related]
9. A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report. Lucane Z, Davidsone Z, Micule I, Auzenbaha M, Kurjane N. Pediatr Rheumatol Online J; 2022 Dec 17; 20(1):118. PubMed ID: 36528591 [Abstract] [Full Text] [Related]
10. Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort. 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 17; 43(7):1581-1596. PubMed ID: 37277582 [Abstract] [Full Text] [Related]
11. Case Report: Parvovirus B19 infection complicated by hemophagocytic lymphohistiocytosis in a heart-lung transplant patient. Zhang X, Wang J, Huang X, Zhu Y, Zhu Y, Tang L, Cai H, Fang X, Huang L. Front Immunol; 2023 Oct 17; 14():1099468. PubMed ID: 36825017 [Abstract] [Full Text] [Related]
13. Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series. Kisla Ekinci RM, Anlas O, Ozalp O. Eur J Med Genet; 2022 Aug 17; 65(8):104555. PubMed ID: 35777620 [Abstract] [Full Text] [Related]
14. Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment. Grim A, Veiga KR, Saad N. Rheum Dis Clin North Am; 2023 Nov 17; 49(4):773-787. PubMed ID: 37821195 [Abstract] [Full Text] [Related]
15. Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals? Pulvirenti F, Cinicola BL, Ferrari S, Guadagnolo D, Sculco E, Capponi M, Loffredo L, Sciannamea M, Insalaco A, Quinti I, De Benedetti F, Zicari AM. Front Immunol; 2023 Nov 17; 14():1156689. PubMed ID: 37207212 [Abstract] [Full Text] [Related]
17. TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2). 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 17; 149(5):1812-1816.e6. PubMed ID: 34780847 [Abstract] [Full Text] [Related]
18. Importance of the determination of enzymatic activity in the diagnosis of deficiency of adenosine deaminase 2 (DADA2). Abbasi A, Batllori M, Gil-Sáez FJ, Rodríguez-Pintó I, Antón López J, Iglesias Jímenez E. Med Clin (Barc); 2022 Sep 23; 159(6):283-286. PubMed ID: 35241284 [Abstract] [Full Text] [Related]