原发性免疫缺陷

Rare diseases (Austin, Tex.) Pub Date : 2020-03-25 DOI:10.5772/intechopen.89624

Renfen Chen

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摘要

刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，张建军，张建军，张建军(2020)。x连锁网状色素紊乱患者的JAK抑制作用[J]。在出版社。Delmonte OM, Baldin F, Ovchinsky N, Marquardsen F, Recher M, Notarangelo LD, Kosinski SM(2020)。新的SP110错义突变与联合免疫缺陷和无VOD的晚期肝病相关。[J]中华临床医学杂志，2004,23(2):444 - 444。Burgener AV, Bantug GR, Meyer BJ, Higgins R, Ghosh A, Bignucolo O, Ma EH, Loeliger J, Unterstab G, Geigges M，等。(2019)。SDHA功能获得通过KEAP1-Nrf2参与炎性线粒体逆行信号。中华生物医学工程学报，21(2):444 - 444。Marquardsen FA, Baldin F, Wunderer F, AlHerz W, Mikhael R, Lefranc G, Baz Z, Rezaee F, Hanna R, Kfir-Erenfeld S等。(2017)。流式细胞术检测Sp110及其在免疫缺陷性静脉闭塞性疾病筛查中的应用中华临床医学杂志，37(2):444 - 444。小组成员

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Primary Immunodeficiency

Légeret C, Meyer BJ, Rovina A, Deigendesch N, Berger CT, Daikeler T, Heijnen I, Burstein E, Köhler H and Recher M (2020). JAK inhibition in a patient with X-linked reticulate pigmentary disorder J Clin Immunol. in press. Delmonte OM, Baldin F, Ovchinsky N, Marquardsen F, Recher M, Notarangelo LD, and Kosinski SM (2020). Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD. J Clin Immunol 40, 236–239. Burgener AV, Bantug GR, Meyer BJ, Higgins R, Ghosh A, Bignucolo O, Ma EH, Loeliger J, Unterstab G, Geigges M, et al. (2019). SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2. Nat Immunol 20, 1311–1321. Marquardsen FA, Baldin F, Wunderer F, AlHerz W, Mikhael R, Lefranc G, Baz Z, Rezaee F, Hanna R, Kfir-Erenfeld S, et al. (2017). Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency. J Clin Immunol 37, 707–714. Group Members

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Rare diseases (Austin, Tex.)

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