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Page 1
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.
Sheikh F, Hawwari A, Alhissi S, Al Gazlan S, Al Dhekri H, Rehan Khaliq AM, Borrero E, El-Baik L, Arnaout R, Al-Mousa H, Alazami AM. Sheikh F, et al. Among authors: alazami am. J Clin Immunol. 2017 Aug;37(6):575-581. doi: 10.1007/s10875-017-0423-5. Epub 2017 Jul 24. J Clin Immunol. 2017. PMID: 28741180 Review.
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.
Zhang Z, Gothe F, Pennamen P, James JR, McDonald D, Mata CP, Modis Y, Alazami AM, Acres M, Haller W, Bowen C, Döffinger R, Sinclair J, Brothers S, Zhang Y, Matthews HF, Naudion S, Pelluard F, Alajlan H, Yamazaki Y, Notarangelo LD, Thaventhiran JE, Engelhardt KR, Al-Mousa H, Hambleton S, Rooryck C, Smith KGC, Lenardo MJ. Zhang Z, et al. Among authors: alazami am. J Exp Med. 2019 Jun 3;216(6):1311-1327. doi: 10.1084/jem.20182304. Epub 2019 Apr 30. J Exp Med. 2019. PMID: 31040185 Free PMC article.
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.
Chou J, Alazami AM, Jaber F, Hoyos-Bachiloglu R, Jones J, Weeks S, Alosaimi MF, Bainter W, Cangemi B, Badran YR, Mohammed R, Alroqi F, Almutairi A, Al-Onazi N, AlAjaji S, Al-Saud B, Arnaout R, Elkins M, Devana S, Imperial J, Li B, Drexhage L, Abdel Rahman AM, Jacob M, Haddad H, Hanna-Wakim R, Dbaibo G, Massaad MJ, Dasouki M, Mikhael R, Baz Z, Geha RS, Al-Mousa H. Chou J, et al. Among authors: alazami am. J Allergy Clin Immunol. 2020 Jul;146(1):192-202. doi: 10.1016/j.jaci.2019.12.004. Epub 2019 Dec 17. J Allergy Clin Immunol. 2020. PMID: 31862378 Clinical Trial.
PAX1 is essential for development and function of the human thymus.
Yamazaki Y, Urrutia R, Franco LM, Giliani S, Zhang K, Alazami AM, Dobbs AK, Masneri S, Joshi A, Otaizo-Carrasquero F, Myers TG, Ganesan S, Bondioni MP, Ho ML, Marks C, Alajlan H, Mohammed RW, Zou F, Valencia CA, Filipovich AH, Facchetti F, Boisson B, Azzari C, Al-Saud BK, Al-Mousa H, Casanova JL, Abraham RS, Notarangelo LD. Yamazaki Y, et al. Among authors: alazami am. Sci Immunol. 2020 Feb 28;5(44):eaax1036. doi: 10.1126/sciimmunol.aax1036. Sci Immunol. 2020. PMID: 32111619 Free PMC article.
A homozygous truncating mutation of FGL2 is associated with immune dysregulation.
Janssen E, Alosaimi MF, Alazami AM, Alsuliman A, Alaiya A, Al-Saud B, Al-Mousa H, Al-Zaid TJ, Smith E, Platt CD, Alruwaili H, Albanyan S, Al-Mayouf SM, Geha RS. Janssen E, et al. Among authors: alazami am. J Allergy Clin Immunol. 2023 Feb;151(2):572-578.e1. doi: 10.1016/j.jaci.2022.10.006. Epub 2022 Oct 13. J Allergy Clin Immunol. 2023. PMID: 36243222
72 results