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Biallelic TLR4 deficiency in humans.
Capitani M, Al-Shaibi AA, Pandey S, Gartner L, Taylor H, Hubrack SZ, Agrebi N, Al-Mohannadi MJ, Al Kaabi S, Vogl T, Roth J, Kotlarz D, Klein C, Charles AK, Vijayakumar V, Karim MY, George B, Travis SP, Elawad M, Lo B, Uhlig HH. Capitani M, et al. Among authors: charles ak. J Allergy Clin Immunol. 2023 Mar;151(3):783-790.e5. doi: 10.1016/j.jaci.2022.08.030. Epub 2022 Nov 30. J Allergy Clin Immunol. 2023. PMID: 36462956 Free article.
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.
Kubo S, Fritz JM, Raquer-McKay HM, Kataria R, Vujkovic-Cvijin I, Al-Shaibi A, Yao Y, Zheng L, Zou J, Waldman AD, Jing X, Farley TK, Park AY, Oler AJ, Charles AK, Makhlouf M, AbouMoussa EH, Hasnah R, Saraiva LR, Ganesan S, Al-Subaiey AA, Matthews H, Flano E, Lee HH, Freeman AF, Sefer AP, Sayar E, Çakır E, Karakoc-Aydiner E, Baris S, Belkaid Y, Ozen A, Lo B, Lenardo MJ. Kubo S, et al. Among authors: charles ak. Nat Immunol. 2022 Jan;23(1):75-85. doi: 10.1038/s41590-021-01093-y. Epub 2021 Dec 22. Nat Immunol. 2022. PMID: 34937930 Free PMC article. Clinical Trial.
Human AGR2 Deficiency Causes Mucus Barrier Dysfunction and Infantile Inflammatory Bowel Disease.
Al-Shaibi AA, Abdel-Motal UM, Hubrack SZ, Bullock AN, Al-Marri AA, Agrebi N, Al-Subaiey AA, Ibrahim NA, Charles AK; COLORS in IBD-Qatar Study Group; Elawad M, Uhlig HH, Lo B. Al-Shaibi AA, et al. Among authors: charles ak. Cell Mol Gastroenterol Hepatol. 2021;12(5):1809-1830. doi: 10.1016/j.jcmgh.2021.07.001. Epub 2021 Jul 6. Cell Mol Gastroenterol Hepatol. 2021. PMID: 34237462 Free PMC article.
88 results