Severe combined immunodeficiency caused by inositol-trisphosphate 3-kinase B (ITPKB) deficiency.
作者信息
Almutairi Abduarahman, Wallace Jacqueline G, Jaber Faris, Alosaimi Mohammed F, Jones Jennifer, Sallam Mohamed T H, Elnagdy M H, Chou Janet, Sobh Ali, Geha Raif S
机构信息
Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass; Department of Pediatrics, Allergy and Immunology Division, King Saud University, Riyadh, Saudi Arabia.
出版信息
J Allergy Clin Immunol. 2020 Jun;145(6):1696-1699.e6. doi: 10.1016/j.jaci.2020.01.014. Epub 2020 Jan 25.
Abstract
摘要
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J Clin Invest. 2019 May 13;129(6):2431-2445. doi: 10.1172/JCI124550.
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Regulation of Hematopoietic Cell Development and Function Through Phosphoinositides.通过磷酸肌醇调节造血细胞的发育和功能。
Front Immunol. 2018 May 4;9:931. doi: 10.3389/fimmu.2018.00931. eCollection 2018.
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Common variable immunodeficiency associated with microdeletion of chromosome 1q42.1-q42.3 and inositol 1,4,5-trisphosphate kinase B (ITPKB) deficiency.常染色体隐性遗传普通变异型免疫缺陷病伴 1q42.1-q42.3 号染色体微缺失和肌醇 1,4,5-三磷酸激酶 B（ITPKB）缺陷。
Clin Transl Immunology. 2016 Jan 22;5(1):e59. doi: 10.1038/cti.2015.41. eCollection 2016 Jan.
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IP3 3-kinase B controls hematopoietic stem cell homeostasis and prevents lethal hematopoietic failure in mice.肌醇三磷酸3激酶B调控造血干细胞稳态并预防小鼠致死性造血功能衰竭。
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