A clinical score to guide in decision making for monogenic type I IFNopathies.
A clinical score to guide in decision making for monogenic type I IFNopathies.
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DOI：
10.1038/s41390-019-0614-2
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发表时间：
2020-03
影响因子：
3.6
通讯作者：
Ozen S
中科院分区：
文献类型：
--
作者：
Sönmez HE;Karaaslan C;de Jesus AA;Batu ED;Anlar B;Sözeri B;Bilginer Y;Karaguzel D;Cagdas Ayvaz D;Tezcan I;Goldbach-Mansky R;Ozen S
制定一套临床标准，以确定潜在的自身炎症性IFN病患者。基于文献综述，选择了一组鉴定经遗传学证实的单基因IFN病的临床标准。为了验证，在健康对照（HC）和18种疾病对照中评估临床评分，包括2种已知的自身免疫性IFN病，幼年型系统性红斑狼疮（JSLE，n = 4）和皮肌炎（JDM，n = 4）;腺苷脱氨酶2缺乏症（DADA 2，n = 4）;和少关节幼年型特发性关节炎（oJIA，n = 6）。我们使用先前发表的28-基因-IRG-S和减少的6-基因-IRG-S通过NanoString评估全血中的IFN评分（IRG-S）。12名可能存在IFN病的患者的临床评分（3-5分）高于sJLE、JDM、DADA 2和oJIA以及HC患者。自身炎性IFN病患者的28-IRG-S和6-IRG-S均显著高于HC和oJIA和DADA 2患者，但与JSLE和JDM患者无差异。随后，遗传分析显示，在12例患者中的9例中，先前报道的与IFN途径相关的基因中的基因突变。我们开发了一种临床评分来识别可能患有自身炎性IFN病的患者。临床评分与高IRG-S相关，可用于识别自身炎性IFN病患者。
To develop a set of clinical criteria that identifies patients with a potential autoinflammatory IFNopathy. Based on a literature review, a set of clinical criteria identifying genetically confirmed monogenic IFNopathies was selected. For validation, the clinical score was assessed in healthy controls (HCs) and 18 disease controls, including 2 known autoimmune IFNopathies, juvenile systemic lupus erythematosus (JSLE, n = 4) and dermatomyositis (JDM, n = 4); adenosine deaminase 2 deficiency (DADA2, n = 4); and oligoarticular juvenile idiopathic arthritis (oJIA, n = 6). We assessed an IFN score (IRG-S) in whole blood by NanoString using a previously published 28-gene-IRG-S and a reduced 6-gene-IRG-S. The 12 patients with a possible IFNopathy had higher clinical scores (3–5) than the patients with sJLE, JDM, DADA2, and oJIA and in HCs. Both the 28-IRG-S and 6-IRG-S were significantly higher in the autoinflammatory IFNopathy patients compared to HCs and oJIA and DADA2 patients but not different from patients with JSLE and JDM. Subsequently, genetic analysis revealed mutations in genes previously reported in genes related to the IFN pathway in 9 of the 12 patients. We developed a clinical score to identify patients with possible autoinflammatory IFNopathies. A clinical score was associated with a high IRG-S and may serve to identify patients with an autoinflammatory IFNopathy.
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DOI：
10.1056/nejmoa1312625
发表时间：
2014-08-07
期刊：
The New England journal of medicine
影响因子：
--
作者：
Liu Y;Jesus AA;Marrero B;Yang D;Ramsey SE;Sanchez GAM;Tenbrock K;Wittkowski H;Jones OY;Kuehn HS;Lee CR;DiMattia MA;Cowen EW;Gonzalez B;Palmer I;DiGiovanna JJ;Biancotto A;Kim H;Tsai WL;Trier AM;Huang Y;Stone DL;Hill S;Kim HJ;St Hilaire C;Gurprasad S;Plass N;Chapelle D;Horkayne-Szakaly I;Foell D;Barysenka A;Candotti F;Holland SM;Hughes JD;Mehmet H;Issekutz AC;Raffeld M;McElwee J;Fontana JR;Minniti CP;Moir S;Kastner DL;Gadina M;Steven AC;Wingfield PT;Brooks SR;Rosenzweig SD;Fleisher TA;Deng Z;Boehm M;Paller AS;Goldbach-Mansky R
通讯作者：
Goldbach-Mansky R
DOI：
10.1084/jem.20151529
发表时间：
2016-06-27
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Meuwissen ME;Schot R;Buta S;Oudesluijs G;Tinschert S;Speer SD;Li Z;van Unen L;Heijsman D;Goldmann T;Lequin MH;Kros JM;Stam W;Hermann M;Willemsen R;Brouwer RW;Van IJcken WF;Martin-Fernandez M;de Coo I;Dudink J;de Vries FA;Bertoli Avella A;Prinz M;Crow YJ;Verheijen FW;Pellegrini S;Bogunovic D;Mancini GM
通讯作者：
Mancini GM
影响因子：
--
作者：
Petri, Michelle;Orbai, Ana-Maria;Alarcon, Graciela S.;Gordon, Caroline;Merrill, Joan T.;Fortin, Paul R.;Bruce, Ian N.;Isenberg, David;Wallace, Daniel J.;Nived, Ola;Sturfelt, Gunnar;Ramsey-Goldman, Rosalind;Bae, Sang-Cheol;Hanly, John G.;Sanchez-Guerrero, Jorge;Clarke, Ann;Aranow, Cynthia;Manzi, Susan;Urowitz, Murray;Gladman, Dafna;Kalunian, Kenneth;Costner, Melissa;Werth, Victoria P.;Zoma, Asad;Bernatsky, Sasha;Ruiz-Irastorza, Guillermo;Khamashta, Munther A.;Jacobsen, Soren;Buyon, Jill P.;Maddison, Peter;Dooley, Mary Anne;van vollenhoven, Ronald F.;Ginzler, Ellen;Stoll, Thomas;Peschken, Christine;Jorizzo, Joseph L.;Callen, Jeffrey P.;Lim, S. Sam;Fessler, Barri J.;Inanc, Murat;Kamen, Diane L.;Rahman, Anisur;Steinsson, Kristjan;Franks, Andrew G., Jr.;Sigler, Lisa;Hameed, Suhail;Fang, Hong;Ngoc Pham;Brey, Robin;Weisman, Michael H.;McGwin, Gerald, Jr.;Magder, Laurence S.
通讯作者：
Magder, Laurence S.
影响因子：
6.7
作者：
Kim, Hanna;Brooks, Kristina M.;Goldbach-Mansky, Raphaela
通讯作者：
Goldbach-Mansky, Raphaela
DOI：
10.1111/j.1749-6632.2011.06220.x
发表时间：
2011-01-01
期刊：
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I
影响因子：
--
作者：
Crow, Yanick J.
通讯作者：
Crow, Yanick J.