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

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

DIAPH1 的遗传性缺陷揭示了由 α-肌动蛋白调控的 DNA 双链断裂修复途径

Woodward Beth L, Lahiri Sudipta, Chauhan Anoop S, Garcia Marcos Rios, Goodley Lucy E, Clarke Thomas L, Pal Mohinder, Agathanggelou Angelo, Jhujh Satpal S, Ganesh Anil N, Hollins Fay M, Deforie Valentina Galassi, Maroofian Reza, Efthymiou Stephanie, Meinhardt Andrea, Mathew Christopher G, Simpson Michael A, Mefford Heather C, Faqeih Eissa A, Rosenzweig Sergio D, Volpi Stefano, Di Matteo Gigliola, Cancrini Caterina, Scardamaglia Annarita, Shackley Fiona, Davies E Graham, Ibrahim Shahnaz, Arkwright Peter D, Zaki Maha S, Stankovic Tatjana, Taylor A Malcolm R, Mazur Antonina J, Di Donato Nataliya, Houlden Henry, Rothenberg Eli, Stewart Grant S

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

ITPR3 中的显性负性变异会损害 T 细胞 Ca2+ 动力学,导致联合免疫缺陷

Blanco Elena, Camps Carme, Bahal Sameer, Kerai Mohit D, Ferla Matteo P, Rochussen Adam M, Handel Adam E, Golwala Zainab M, Spiridou Goncalves Helena, Kricke Susanne, Klein Fabian, Zhang Fang, Zinghirino Federica, Evans Grace, Keane Thomas M, Lizot Sabrina, Kusters Maaike A A, Iro Mildred A, Patel Sanjay V, Morris Emma C, Burns Siobhan O, Radcliffe Ruth, Vasudevan Pradeep, Price Arthur, Gillham Olivia, Valdebenito Gabriel E, Stewart Grant S, Worth Austen, Adams Stuart P, Duchen Michael, André Isabelle, Adams David J, Santili Giorgia, Gilmour Kimberly C, Holländer Georg A, Davies E Graham, Taylor Jenny C, Griffiths Gillian M, Thrasher Adrian J, Dhalla Fatima, Kreins Alexandra Y

Impact of newborn screening for SCID on the management of congenital athymia

新生儿SCID筛查对先天性无胸腺症管理的影响

Howley, Evey; Golwala, Zainab; Buckland, Matthew; Barzaghi, Federica; Ghosh, Sujal; Hackett, Scott; Hague, Rosie; Hauck, Fabian; Holzer, Ursula; Klocperk, Adam; Koskenvuo, Minna; Marcus, Nufar; Marzollo, Antonio; Pac, Malgorzata; Sinclair, Jan; Speckmann, Carsten; Soomann, Maarja; Speirs, Lynne; Suresh, Sneha; Taque, Sophie; van Montfrans, Joris; von Bernuth, Horst; Wainstein, Brynn K; Worth, Austen; Davies, E Graham; Kreins, Alexandra Y

Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

更正:22q11.2染色体缺失综合征及其他胸腺发育缺陷的免疫学管理临床实践指南

Mustillo, Peter J; Sullivan, Kathleen E; Chinn, Ivan K; Notarangelo, Luigi D; Haddad, Elie; Davies, E Graham; de la Morena, Maria Teresa; Hartog, Nicholas; Yu, Joyce E; Hernandez-Trujillo, Vivian P; Ip, Winnie; Franco, Jose; Gambineri, Eleonora; Hickey, Scott E; Varga, Elizabeth; Markert, M Louise

Favipiravir induces HuNoV viral mutagenesis and infectivity loss with clinical improvement in immunocompromised patients

法匹拉韦可诱导人诺如病毒发生突变并丧失感染性,从而改善免疫功能低下患者的临床症状。

Kreins, Alexandra Y; Roux, Emma; Pang, Juanita; Cheng, Iek; Charles, Oscar; Roy, Sunando; Mohammed, Reem; Owens, Stephen; Lowe, David M; Brugha, Rossa; Williams, Rachel; Howley, Evey; Best, Timothy; Davies, E Graham; Worth, Austen; Solas, Caroline; Standing, Joseph F; Goldstein, Richard A; Rocha-Pereira, Joana; Breuer, Judith

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

22q11.2染色体缺失综合征及其他胸腺发育缺陷的免疫学管理临床实践指南

Mustillo, Peter J; Sullivan, Kathleen E; Chinn, Ivan K; Notarangelo, Luigi D; Haddad, Elie; Davies, E Graham; de la Morena, Maria Teresa; Hartog, Nicholas; Yu, Joyce E; Hernandez-Trujillo, Vivian P; Ip, Winnie; Franco, Jose; Gambineri, Eleonora; Hickey, Scott E; Varga, Elizabeth; Markert, M Louise

Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

德国新生儿重症联合免疫缺陷症筛查:儿科免疫学工作组 (API) 的初步分析

Speckmann, Carsten; Nennstiel, Uta; Hönig, Manfred; Albert, Michael H; Ghosh, Sujal; Schuetz, Catharina; Brockow, Inken; Hörster, Friederike; Niehues, Tim; Ehl, Stephan; Wahn, Volker; Borte, Stephan; Lehmberg, Kai; Baumann, Ulrich; Beier, Rita; Krüger, Renate; Bakhtiar, Shahrzad; Kuehl, Joern-Sven; Klemann, Christian; Kontny, Udo; Holzer, Ursula; Meinhardt, Andrea; Morbach, Henner; Naumann-Bartsch, Nora; Rothoeft, Tobias; Kreins, Alexandra Y; Davies, E Graham; Schneider, Dominik T; Bernuth, Horst V; Klingebiel, Thomas; Hoffmann, Georg F; Schulz, Ansgar; Hauck, Fabian

Corrigendum to "Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients" [Clinical Immunology 255 (2023) 109757]

对“扩展 PAX1 缺陷型 SCID 和 CID 患者的临床和免疫表型”的更正 [临床免疫学 255 (2023) 109757]

Yakici, Nalan; Kreins, Alexandra Y; Catak, Mehmet Cihangir; Babayeva, Royala; Erman, Baran; Kenney, Heather; Eke-Gungor, Hatice; Cea, Pablo A; Kawai, Tomoki; Bosticardo, Marita; Delmonte, Ottavia Maria; Adams, Stuart; Fan, Yu-Tong; Pala, Francesca; Turkyilmaz, Ayberk; Howley, Evey; Worth, Austen; Kot, Hakan; Sefer, Asena Pinar; Kara, Altan; Bulutoglu, Alper; Bilgic-Eltan, Sevgi; Yorgun Altunbas, Melek; Bayram Catak, Feyza; Karakus, Ibrahim Serhat; Karatay, Emrah; Tekeoglu, Sidem Didar; Eser, Metin; Albayrak, Davut; Citli, Senol; Kiykim, Ayca; Karakoc-Aydiner, Elif; Ozen, Ahmet; Ghosh, Sujal; Gohlke, Holger; Orhan, Fazil; Notarangelo, Luigi D; Davies, E Graham; Baris, Safa

Congenital Athymia: Unmet Needs and Practical Guidance

先天性无胸症:未满足的需求和实用指导

Howley, Evey; Davies, E Graham; Kreins, Alexandra Y