日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program

TREC新生儿筛查中的综合征性先天性免疫缺陷:德国筛查项目的5年经验

Graafen, Lea; Speckmann, Carsten; Bakhtiar, Shahrzad; Bernuth, Horst V; Lehmberg, Kai; Bader, Peter; Baumann, Ulrich; Beier, Rita; Borte, Stephan; Brockow, Inken; Davies, E Graham; Hartmann, Maximilian; Holzer, Ursula; Klemann, Christian; Kreins, Alexandra Y; Krüger, Renate; Kontny, Udo; Laws, Hans-Jürgen; Meinhardt, Andrea; Morbach, Henner; Naumann-Bartsch, Nora; Rothoeft, Tobias; Schneider, Dominik T; Willasch, Andre; Worth, Austen; Seidel, Markus G; Albert, Michael H; Ehl, Stephan; Hauck, Fabian; Hönig, Manfred; Schulz, Ansgar; Schuetz, Catharina; Ghosh, Sujal

Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia.

显性负性 PSMB10 会破坏免疫蛋白酶体的组装,导致短暂性 T 淋巴细胞减少症。

Ghosh Sujal, Wang Yuqin, Schultheiss Christoph, Borkhardt Arndt, Dafun Angelique Sanchez, Knipp Liisa, Marwitz Sebastian, Ehl Stephan, Soulard Clara, Haddad Elie, Dey Debayan, Evans Grace, Golwala Zainab M, Bennstein Sabrina B, Laws Hans-Jürgen, Rohlfs Meino, Magg Thomas, Binder Mascha, Kreins Alexandra Y, Bousquet Marie-Pierre, Marcoux Julien, Klein Christoph, Conn Graeme L, Meiners Silke, Hauck Fabian

Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants

超越基因型:预测双等位基因穿孔素变异携带者疾病风险的挑战

Wegehaupt, Oliver; Borisov, Oleg; Sieni, Elena; Oyen, Florian; Mann, Jasmin; Coniglio, Maria Luisa; Chinnici, Aurora; Pegoraro, Francesco; Beneforti, Linda; Gilmour, Kimberly; Moshous, Despina; de Saint Basile, Geneviève; Zhang, Wenying; Marsh, Rebecca; De Fusco, Carmela; Wustrau, Katharina; Timeus, Fabio; Micalizzi, Concetta; Gunsilius, Eberhard; Hosking, Laine; Choo, Sharon; Ghosh, Sujal; Köttgen, Anna; Lehmberg, Kai; Ehl, Stephan

Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry

病例报告:活化型PI3激酶δ综合征与卵巢恶性肿瘤:来自欧洲ESID-APDS登记处的一系列病例

Esposto, Maria Pia; Mahlaoui, Nizar; Abolhassani, Hassan; Van Aerde, Koen; Cesaro, Simone; Chandra, Anita; Ehl, Stephan; Kracker, Sven; Suarez, Felipe; Barlogis, Vincent; Parisi, Alice; Maccari, Maria Elena; Chinello, Matteo

A Novel Description of Immunodeficiency and Immune Dysregulation in a 14-Year-Old Girl with Noonan Syndrome 13

对一名患有努南综合征的14岁女孩的免疫缺陷和免疫失调的新描述 13

Tabassum, Saira; Grün, Sarah; Molloy, Ben; Jones, Eppie; Buckley, Patrick G; Amet, Rebecca; McElligott, Anthony M; Doherty, Derek G; Ehl, Stephan; Leahy, Timothy Ronan

Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): an externally controlled study

一项外部对照研究比较了 leniolisib (CDZ173) 与标准疗法对活化磷脂酰肌醇 3-激酶 δ (PI3Kδ) 综合征 (APDS) 患者呼吸道感染率和血清免疫球蛋白 M (IgM) 水平的影响:一项外部对照研究

Whalen, John; Chandra, Anita; Kracker, Sven; Ehl, Stephan; Seidel, Markus G; Gulas, Ioana; Dron, Louis; Velummailum, Russanthy; Nagamuthu, Chenthila; Liu, Sichen; Tutein Nolthenius, Joanne; Maccari, Maria Elena

γδ T Cells and Inborn Errors of Immunity

γδ T 细胞与先天性免疫缺陷

Sagar; Ehl, Stephan

Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patients

先天性免疫缺陷:临床表现、治疗和预后——ESID 1994-2024 年 30,628 例患者的注册报告

Kindle, Gerhard; Alligon, Mickaël; Albert, Michael H; Buckland, Matthew; Edgar, J David; Gathmann, Benjamin; Ghosh, Sujal; Gkantaras, Antonios; Nieters, Alexandra; Pignata, Claudio; Robinson, Peter N; Rusch, Stephan; Schuetz, Catharina; Sharapova, Svetlana; Shillitoe, Benjamin; Candotti, Fabio; Cant, Andrew J; Casanova, Jean-Laurent; Etzioni, Amos; Fischer, Alain; Meyts, Isabelle; Notarangelo, Luigi D; Pergent, Martine; Smith, C I Edvard; Hammarström, Lennart; Grimbacher, Bodo; Seppänen, Mikko R J; Mahlaoui, Nizar; Ehl, Stephan; Seidel, Markus G

Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patients

先天性免疫缺陷:临床表现、治疗和预后——ESID 1994-2024 年注册研究报告(30,628 例患者)

Kindle, Gerhard; Alligon, Mickaël; Albert, Michael H; Buckland, Matthew; Edgar, J David; Gathmann, Benjamin; Ghosh, Sujal; Gkantaras, Antonios; Nieters, Alexandra; Pignata, Claudio; Robinson, Peter; Rusch, Stephan; Schuetz, Catharina; Sharapova, Svetlana; Shillitoe, Benjamin; Candotti, Fabio; Cant, Andrew J; Casanova, Jean-Laurent; Etzioni, Amos; Fischer, Alain; Meyts, Isabelle; Notarangelo, Luigi D; Pergent, Martine; Smith, C I Edvard; Hammarström, Lennart; Grimbacher, Bodo; Seppänen, Mikko; Mahlaoui, Nizar; Ehl, Stephan; Seidel, Markus G

Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis

T细胞检测在诊断细胞毒性淋巴细胞胞吐原发性缺陷中的有效性

Chiang, Samuel C C; Covill, Laura E; Tesi, Bianca; Campbell, Tessa M; Schlums, Heinrich; Nejati-Zendegani, Jelve; Mördrup, Karina; Wood, Stephanie; Theorell, Jakob; Sekine, Takuya; Al-Herz, Waleed; Akar, Himmet Haluk; Belen, Fatma Burcu; Chan, Mei Yoke; Devecioglu, Omer; Aksu, Tekin; Ifversen, Marianne; Malinowska, Iwona; Sabel, Magnus; Unal, Ekrem; Unal, Sule; Introne, Wendy J; Krzewski, Konrad; Gilmour, Kimberly C; Ehl, Stephan; Ljunggren, Hans-Gustaf; Nordenskjöld, Magnus; Horne, AnnaCarin; Henter, Jan-Inge; Meeths, Marie; Bryceson, Yenan T