Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia

Author:

Alabbas FahadORCID,Alanzi Talal,Alrasheed Abdulrahman,Essa MohammedORCID,Elyamany GhalebORCID,Asiri Abdulrahman,Almutairi Sajdi,Al-Mayouf Sulaiman,Alenazi Abdullatif,Alsafadi Danyah,Ballourah Walid,Albalawi Naif,Hanafy Ehab,Al-Hebshi Abdulqader,Alrashidi Seham,Albatniji Fatma,Alfaraidi Huda,Ali Tahani Bin,Al Qwaiee Mansour,AlHilali Maryam,Aldeeb Hayam,Alhaidey Ali,Aljasem Hassan,Althubaiti Sami,Alsultan Abdulrahman

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Reference38 articles.

1. 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;370(10):911–20. https://doi.org/10.1056/NEJMoa1307361.

2. Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370(10):921–31. https://doi.org/10.1056/NEJMoa1307362.

3. Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38:569–78. https://doi.org/10.1007/s10875-018-0525-8.

4. Aksentijevich I, Moura NS, Barron K. GeneReviews. Bookshelf; 2019. https://www.ncbi.nlm.nih.gov/books/. Accessed 29 Jan 2022.

5. Nanthapisal S, Murphy C, Omoyinmi E, Hong Y, Standing A, Berg S, Ekelund M, Jolles S, Harper L, Youngstein T, Gilmour K, Klein NJ, Eleftheriou D, Brogan PA. Deficiency of adenosine deaminase Type 2: a description of phenotype and genotype in fifteen cases. Arthritis Rheumatol. 2016;68:2314–22. https://doi.org/10.1002/art.39699.

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