KAZUISTIKY Deficiencia adenozín-deaminázy 2. typu (DADA2) – prvé skúsenosti na Slovensku: kazuistiky 254 | VNITŘNÍ LÉKAŘSTVÍ / Vnitř Lék. 2024;70(4):246-254 / www.casopisvnitrnilekarstvi.cz 9. National Center for Biotechnology Information. ClinVar; [VCV000120303.32] [Internet]. [cited 2022 May 24]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/120303/ 10. National Center for Biotechnology Information. ClinVar; [VCV000956376.3] [Internet]. [cited 2022 May 23]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/956376/ 11. Richards S, Aziz N, Bale S, et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-24. 12. Infevers. ADA2 sequence variants [Internet]. [cited 2023 May 7]. Available from: https:// infevers.umai-montpellier.fr/web/search.php?n=20 13. Jee H, Huang Z, Baxter S, et al. Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach. J Allergy Clin Immunol. 2022;149(1):379-87. 14. Maccora I, Maniscalco V, Campani S, et al. A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review. Orphanet J Rare Dis. 2023;18:117. 15. Rakesh Kumar P, Aaqib Zaffar B, Saniya S, et al. Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist. Front Immunol. 2022;13:869570. 16. Belot A, Wassmer E, Twilt M, et al. Mutations in CECR1 associated with a neutrophil signature in peripheral blood. Pediatr Rheumatol Online J. 2014;12:44. 17. Caorsi R, Penco F, Grossi A, et al. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis. 2017;76(10):1648-56. 18. Lee PY, Davidson BA, Abraham RS, et al. Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement. JAMA Netw Open. 2023;6(5):e2315894. 19. Ombrello AK, Qin J, Hoffmann PM, et al. Treatment Strategies for Deficiency of Adenosine Deaminase 2. N Engl J Med. 2019;380(16):1582-4. 20. Thorarinsdottir K, Camponeschi A, Cavallini N, et al. CD21–/low B cells in human blood are memory cells. Clin Exp Immunol. 2016;185(2):252-62. 21. Yap JY, Moens L, Lin MW, et al. Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency. J Clin Immunol. 2021;41(8):1915-35. 22. Schnappauf O, Zhou Q, Moura NS, et al. Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. J Clin Immunol. 2020;40(6):917-26. 23. Hashem H, Bucciol G, Ozen S, et al. Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. J Clin Immunol. 2021;41(7):1633-47. 24. Hashem H, Dimitrova D, Meyts I. Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations. Front Immunol. 2022;13:932385. 25. Elbracht M, Mull M, Wagner N, et al. Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency. Neuropediatrics. 2017;48(2):111-4. ODBORNÝ GARANT: prof. MUDr. Michal Vrablík, Ph.D. III. interní klinika 1. LF UK a VFN v Praze POŘADATEL: SOLEN, s. r. o. PARTNER POČET KREDITŮ 2 Registrace ZDARMA TERMÍN září 2023 až srpen 2024 dostupný na online.solen.cz On-line kurz Kardiologie ON LINE KURZ PŘEDNÁŠKY Co je u nových tabulek SCORE opravdu důležité? Modelové situace v ordinaci a jak je řešit – MUDr. Jaromír Ožana, MUDr. Michal Mačák Speciality v léčbě hypertenze – doc. MUDr. Ondřej Petrák, Ph.D. Aktuality a praktické tipy v léčbě dyslipidemie – MUDr. Eva Tůmová, Ph.D. Co (ne)budeme potřebovat od biochemické laboratoře pro stanovení kardiovaskulárního rizika? – prof. MUDr. Michal Vrablík, Ph.D.
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