Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation.
Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation.
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DOI：
10.3389/fimmu.2020.557521
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发表时间：
2020
影响因子：
7.3
通讯作者：
Kusuhara K
中科院分区：
文献类型：
--
作者：
Nemoto K;Kawanami T;Hoshina T;Ishimura M;Yamasaki K;Okada S;Kanegane H;Yatera K;Kusuhara K
低丙种球蛋白血症是STAT1功能获得性（GOF）突变的罕见并发症。我们报告一位在治疗播散性隐球菌病期间，因B细胞耗竭而诊断为低丙种球蛋白血症的成人患者。患者携带STAT1 GOF突变（c.820C>T，p.R274W）。对他的骨髓进行的流式细胞术分析显示，B细胞分化在前B1b和前B2细胞之间的阶段被阻断。另一方面，他携带相同突变的兄弟显示正常的B细胞计数，从而表明相同或其他基因中未识别的变异可能与患者的异常B细胞分化有关。总之，骨髓中B细胞分化受损可导致STAT1 GOF突变患者的低丙种球蛋白血症。
Hypogammaglobulinemia is a rare complication of STAT1 gain-of-function (GOF) mutations. We report an adult patient diagnosed with hypogammaglobulinemia caused by B-cell depletion during the treatment of disseminated cryptococcosis. The patient carried the STAT1 GOF mutation (c.820C>T, p.R274W). The flow cytometric analysis of his bone marrow revealed that B-cell differentiation was blocked in the stages between pre-B1b and pre-B2 cells. On the other hand, his brother who carried the same mutation displayed normal B-cell counts, thereby indicating that the unrecognized variants in same or other gene might be associated with abnormal B-cell differentiation in the patients. In conclusion, impaired B-cell differentiation in the bone marrow can cause hypogammaglobulinemia in patients with STAT1 GOF mutations.
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影响因子：
32.4
作者：
Valdez PA;Vithayathil PJ;Janelsins BM;Shaffer AL;Williamson PR;Datta SK
通讯作者：
Datta SK
影响因子：
9.1
作者：
Picard C;Bobby Gaspar H;Al-Herz W;Bousfiha A;Casanova JL;Chatila T;Crow YJ;Cunningham-Rundles C;Etzioni A;Franco JL;Holland SM;Klein C;Morio T;Ochs HD;Oksenhendler E;Puck J;Tang MLK;Tangye SG;Torgerson TR;Sullivan KE
通讯作者：
Sullivan KE
DOI：
10.1084/jem.20110958
发表时间：
2011-08-01
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Liu L;Okada S;Kong XF;Kreins AY;Cypowyj S;Abhyankar A;Toubiana J;Itan Y;Audry M;Nitschke P;Masson C;Toth B;Flatot J;Migaud M;Chrabieh M;Kochetkov T;Bolze A;Borghesi A;Toulon A;Hiller J;Eyerich S;Eyerich K;Gulácsy V;Chernyshova L;Chernyshov V;Bondarenko A;Grimaldo RM;Blancas-Galicia L;Beas IM;Roesler J;Magdorf K;Engelhard D;Thumerelle C;Burgel PR;Hoernes M;Drexel B;Seger R;Kusuma T;Jansson AF;Sawalle-Belohradsky J;Belohradsky B;Jouanguy E;Bustamante J;Bué M;Karin N;Wildbaum G;Bodemer C;Lortholary O;Fischer A;Blanche S;Al-Muhsen S;Reichenbach J;Kobayashi M;Rosales FE;Lozano CT;Kilic SS;Oleastro M;Etzioni A;Traidl-Hoffmann C;Renner ED;Abel L;Picard C;Maródi L;Boisson-Dupuis S;Puel A;Casanova JL
通讯作者：
Casanova JL
影响因子：
9.1
作者：
Depner M;Fuchs S;Raabe J;Frede N;Glocker C;Doffinger R;Gkrania-Klotsas E;Kumararatne D;Atkinson TP;Schroeder HW Jr;Niehues T;Dückers G;Stray-Pedersen A;Baumann U;Schmidt R;Franco JL;Orrego J;Ben-Shoshan M;McCusker C;Jacob CM;Carneiro-Sampaio M;Devlin LA;Edgar JD;Henderson P;Russell RK;Skytte AB;Seneviratne SL;Wanders J;Stauss H;Meyts I;Moens L;Jesenak M;Kobbe R;Borte S;Borte M;Wright DA;Hagin D;Torgerson TR;Grimbacher B
通讯作者：
Grimbacher B
影响因子：
5.1
作者：
Morinishi, Yoichi;Imai, Kohsuke;Nonoyama, Shigeaki
通讯作者：
Nonoyama, Shigeaki