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Page 1
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. 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. Sci Immunol. 2020 Feb 28;5(44):eaax1036. doi: 10.1126/sciimmunol.aax1036. Sci Immunol. 2020. PMID: 32111619 Free PMC article.
Novel mutation in DOCK8-HIES with severe phenotype and successful transplantation.
Al Shekaili L, Sheikh F, Al Gazlan S, Al Dhekri H, Al Mousa H, Al Ghonaium A, Al Saud B, Al Mohsen S, Rehan Khaliq AM, Al Sumayli S, Al Zahrani M, Dababo A, AlKawi A, Hawwari A, Arnaout R. Al Shekaili L, et al. Clin Immunol. 2017 May;178:39-44. doi: 10.1016/j.clim.2016.08.002. Epub 2016 Nov 23. Clin Immunol. 2017. PMID: 27890707
Allogeneic stem cell transplantation using myeloablative and reduced-intensity conditioning in patients with major histocompatibility complex class II deficiency.
Al-Mousa H, Al-Shammari Z, Al-Ghonaium A, Al-Dhekri H, Al-Muhsen S, Al-Saud B, Arnaout R, Al-Seraihy A, Al-Jefri A, Al-Ahmari A, Ayas M, El-Solh H. Al-Mousa H, et al. Biol Blood Marrow Transplant. 2010 Jun;16(6):818-23. doi: 10.1016/j.bbmt.2010.01.002. Epub 2010 Jan 14. Biol Blood Marrow Transplant. 2010. PMID: 20079864 Free article.
Grave aortic aneurysmal dilatation in DOCK8 deficiency.
Al Mutairi M, Al-Mousa H, AlSaud B, Hawwari A, AlJoufan M, AlWesaibi A, AlHalees Z, Al-Mayouf SM. Al Mutairi M, et al. Mod Rheumatol. 2014 Jul;24(4):690-3. doi: 10.3109/14397595.2013.874735. Epub 2014 Feb 11. Mod Rheumatol. 2014. PMID: 24517560
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D, Goljan E; Rapid Exome Consortium; Assoum M, Albreacan M, Binhumaid F, Subhani S, Boureggah A, Hashem M, Abdulwahab F, Abuyousef O, Temsah MH, Alsohime F, Kelaher J, Abouelhoda M, Meyer BF, Alkuraya FS. Monies D, et al. Genome Med. 2023 Jun 21;15(1):44. doi: 10.1186/s13073-023-01192-5. Genome Med. 2023. PMID: 37344829 Free PMC article.
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home.
Al-Saud B, AlRumayyan N, Alfattani A, Awwad SA, Al Saud D, Mohammed R, Albuhairi S, Elshorbagi S, Balhareth SS, Al-Dhekri H, Arnaout R, De Vol EB, Al-Mousa H. Al-Saud B, et al. J Clin Immunol. 2023 Aug;43(6):1360-1366. doi: 10.1007/s10875-023-01507-6. Epub 2023 May 5. J Clin Immunol. 2023. PMID: 37145392 Free PMC article.
58 results