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Dominant negative OTULIN-related autoinflammatory syndrome.
Davidson S, Shibata Y, Collard S, Zheng H, Kong K, Sun JM, Laohamonthonkul P, Cerra A, Kratina T; CIRCA; AADRY; Li MWY, Russell C, van Beek A, Kirk EP, Walsh R, Alqanatish J, Almojali A, Alsuwairi W, Alrasheed A, Lalaoui N, Gray PE, Komander D, Masters SL. Davidson S, et al. Among authors: alrasheed a. J Exp Med. 2024 Jun 3;221(6):e20222171. doi: 10.1084/jem.20222171. Epub 2024 Apr 17. J Exp Med. 2024. PMID: 38630025
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
Alabbas F, Alanzi T, Alrasheed A, Essa M, Elyamany G, Asiri A, Almutairi S, Al-Mayouf S, Alenazi A, Alsafadi D, Ballourah W, Albalawi N, Hanafy E, Al-Hebshi A, Alrashidi S, Albatniji F, Alfaraidi H, Ali TB, Al Qwaiee M, AlHilali M, Aldeeb H, Alhaidey A, Aljasem H, Althubaiti S, Alsultan A. Alabbas F, et al. Among authors: alrasheed a. J Clin Immunol. 2023 Feb;43(2):338-349. doi: 10.1007/s10875-022-01364-9. Epub 2022 Oct 14. J Clin Immunol. 2023. PMID: 36239861
A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI).
Lin B, Berard R, Al Rasheed A, Aladba B, Kranzusch PJ, Henderlight M, Grom A, Kahle D, Torreggiani S, Aue AG, Mitchell J, de Jesus AA, Schulert GS, Goldbach-Mansky R. Lin B, et al. J Allergy Clin Immunol. 2020 Nov;146(5):1204-1208.e6. doi: 10.1016/j.jaci.2020.06.032. Epub 2020 Jul 13. J Allergy Clin Immunol. 2020. PMID: 32673614 Free PMC article. No abstract available.
Neuromyelitis optica spectrum disorders in Arabian Gulf (NMOAG); establishment and initial characterization of a patient registry.
Shosha E, Al Asmi A, Nasim E, Inshasi J, Abdulla F, Al Malik Y, Althobaiti A, Alzawahmah M, Alnajashi HA, Binfalah M, AlHarbi A, Thubaiti IA, Ahmed SF, Al-Hashel J, Elyas M, Nandhagopal R, Gujjar A, Harbi TA, Towaijri GA, Alsharooqi IA, AlMaawi A, Al Khathaami AM, Alotaibi N, Nahrir S, Al Rasheed AA, Al Qahtani M, Alawi S, Hundallah K, Jumah M, Alroughani R; with the Guthy-Jackson Charitable Foundation International Clinical Consortium. Shosha E, et al. Mult Scler Relat Disord. 2020 Feb;38:101448. doi: 10.1016/j.msard.2019.101448. Epub 2019 Oct 19. Mult Scler Relat Disord. 2020. PMID: 32164911
148 results