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Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D, van Leeuwen K, Madkaikar M, Kambli PM, Gupta M, Mathews V, Rawat A, Kuhns DB, Holland SM, de Boer M, Kanegane H, Parvaneh N, Lorenz M, Schwarz K, Klein C, Sherkat R, Jafari M, Wolach B, den Dunnen JT, Kuijpers TW, Köker MY. Roos D, et al. Among authors: sherkat r. Blood Cells Mol Dis. 2023 Mar;99:102726. doi: 10.1016/j.bcmd.2023.102726. Epub 2023 Jan 20. Blood Cells Mol Dis. 2023. PMID: 36696755
Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.
Nekooie-Marnany N, Deswarte C, Ostadi V, Bagherpour B, Taleby E, Ganjalikhani-Hakemi M, Le Voyer T, Rahimi H, Rosain J, Pourmoghadas Z, Sheikhbahaei S, Khoshnevisan R, Petersheim D, Kotlarz D, Klein C, Boisson-Dupuis S, Casanova JL, Bustamante J, Sherkat R. Nekooie-Marnany N, et al. Among authors: sherkat r. J Clin Immunol. 2018 Oct;38(7):787-793. doi: 10.1007/s10875-018-0548-1. Epub 2018 Sep 25. J Clin Immunol. 2018. PMID: 30255293 Free PMC article.
IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease.
Khoshnevisan R, Nekooei-Marnany N, Klein C, Kotlarz D, Behnam M, Ostadi V, Yaran M, Rezaei A, Sherkat R. Khoshnevisan R, et al. Among authors: sherkat r. J Clin Tuberc Other Mycobact Dis. 2019 Sep 20;17:100123. doi: 10.1016/j.jctube.2019.100123. eCollection 2019 Dec. J Clin Tuberc Other Mycobact Dis. 2019. PMID: 31788565 Free PMC article.
84 results