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

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

扩展 PRAAS 谱系:6 例 SCID-Omenn 综合征患儿中免疫蛋白酶体亚基 β 型 10 的新生突变

van der Made, Caspar I; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R; Ramakrishnan, Gayatri; Griffin, Helen; Schim van der Loeff, Ina; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H M; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M; van de Veerdonk, Frank L; Netea, Mihai G; Slatter, Mary A; Flood, Terry; Gennery, Andrew R; Simon, Amos J; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S V; Hoischen, Alexander

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

STXBP3 的变异与极早期发病的炎症性肠病、双侧感觉神经性听力损失和免疫失调有关

Ouahed Jodie, Kelsen Judith R, Spessott Waldo A, Kooshesh Kameron, Sanmillan Maria L, Dawany Noor, Sullivan Kathleen E, Hamilton Kathryn E, Slowik Voytek, Nejentsev Sergey, Neves João Farela, Flores Helena, Chung Wendy K, Wilson Ashley, Anyane-Yeboa Kwame, Wou Karen, Jain Preti, Field Michael, Tollefson Sophia, Dent Maiah H, Li Dalin, Naito Takeo, McGovern Dermot P B, Kwong Andrew C, Taliaferro Faith, Ordovas-Montanes Jose, Horwitz Bruce H, Kotlarz Daniel, Klein Christoph, Evans Jonathan, Dorsey Jill, Warner Neil, Elkadri Abdul, Muise Aleixo M, Goldsmith Jeffrey, Thompson Benjamin, Engelhardt Karin R, Cant Andrew J, Hambleton Sophie, Barclay Andrew, Toth-Petroczy Agnes, Vuzman Dana, Carmichael Nikkola, Bodea Corneliu, Cassa Christopher A, Devoto Marcella, Maas Richard L, Behrens Edward M, Giraudo Claudio G, Snapper Scott B

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

STAT2基因纯合种系突变导致严重的I型干扰素病和不受控制的干扰素信号传导。

Duncan, Christopher J A; Thompson, Benjamin J; Chen, Rui; Rice, Gillian I; Gothe, Florian; Young, Dan F; Lovell, Simon C; Shuttleworth, Victoria G; Brocklebank, Vicky; Corner, Bronte; Skelton, Andrew J; Bondet, Vincent; Coxhead, Jonathan; Duffy, Darragh; Fourrage, Cecile; Livingston, John H; Pavaine, Julija; Cheesman, Edmund; Bitetti, Stephania; Grainger, Angela; Acres, Meghan; Innes, Barbara A; Mikulasova, Aneta; Sun, Ruyue; Hussain, Rafiqul; Wright, Ronnie; Wynn, Robert; Zarhrate, Mohammed; Zeef, Leo A H; Wood, Katrina; Hughes, Stephen M; Harris, Claire L; Engelhardt, Karin R; Crow, Yanick J; Randall, Richard E; Kavanagh, David; Hambleton, Sophie; Briggs, Tracy A

Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20)

由 TNFAIP3 (A20) 基因杂合功能丧失突变引起的早发性自身免疫性疾病

Duncan, Christopher J A; Dinnigan, Emma; Theobald, Rachel; Grainger, Angela; Skelton, Andrew J; Hussain, Rafiqul; Willet, Joseph D P; Swan, David J; Coxhead, Jonathan; Thomas, Matthew F; Thomas, Julian; Zamvar, Veena; Slatter, Mary A; Cant, Andrew J; Engelhardt, Karin R; Hambleton, Sophie

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency

发现14年后:15例诱导型共刺激分子缺乏症患者的临床随访

Schepp, Johanna; Chou, Janet; Skrabl-Baumgartner, Andrea; Arkwright, Peter D; Engelhardt, Karin R; Hambleton, Sophie; Morio, Tomohiro; Röther, Ekkehard; Warnatz, Klaus; Geha, Raif; Grimbacher, Bodo

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing

利用全外显子组测序鉴定IL7R中的杂合单外显子和多外显子缺失

Engelhardt, Karin R; Xu, Yaobo; Grainger, Angela; Germani Batacchi, Mila G C; Swan, David J; Willet, Joseph D P; Abd Hamid, Intan J; Agyeman, Philipp; Barge, Dawn; Bibi, Shahnaz; Jenkins, Lucy; Flood, Terence J; Abinun, Mario; Slatter, Mary A; Gennery, Andrew R; Cant, Andrew J; Santibanez Koref, Mauro; Gilmour, Kimberly; Hambleton, Sophie

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

常染色体隐性MST1缺陷导致的人类联合免疫缺陷症是由白细胞黏附和趋化功能障碍引起的。

Dang, Tarana Singh; Willet, Joseph D P; Griffin, Helen R; Morgan, Neil V; O'Boyle, Graeme; Arkwright, Peter D; Hughes, Stephen M; Abinun, Mario; Tee, Louise J; Barge, Dawn; Engelhardt, Karin R; Jackson, Michael; Cant, Andrew J; Maher, Eamonn R; Koref, Mauro Santibanez; Reynard, Louise N; Ali, Simi; Hambleton, Sophie

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

勘误:白细胞黏附和趋化缺陷导致常染色体隐性MST1缺陷型人类发生联合免疫缺陷

Dang, Tarana Singh; Willet, Joseph D P; Griffin, Helen R; Morgan, Neil V; O'Boyle, Graeme; Arkwright, Peter D; Hughes, Stephen M; Abinun, Mario; Tee, Louise J; Barge, Dawn; Engelhardt, Karin R; Jackson, Michael; Cant, Andrew J; Maher, Eamonn R; Koref, Mauro Santibanez; Reynard, Louise N; Ali, Simi; Hambleton, Sophie

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

对64例胞质分裂调节因子8缺陷患者的扩展临床表型分析

Engelhardt, Karin R; Gertz, Michael E; Keles, Sevgi; Schäffer, Alejandro A; Sigmund, Elena C; Glocker, Cristina; Saghafi, Shiva; Pourpak, Zahra; Ceja, Ruben; Sassi, Atfa; Graham, Laura E; Massaad, Michel J; Mellouli, Fethi; Ben-Mustapha, Imen; Khemiri, Monia; Kilic, Sara Sebnem; Etzioni, Amos; Freeman, Alexandra F; Thiel, Jens; Schulze, Ilka; Al-Herz, Waleed; Metin, Ayse; Sanal, Özden; Tezcan, Ilhan; Yeganeh, Mehdi; Niehues, Tim; Dueckers, Gregor; Weinspach, Sebastian; Patiroglu, Turkan; Unal, Ekrem; Dasouki, Majed; Yilmaz, Mustafa; Genel, Ferah; Aytekin, Caner; Kutukculer, Necil; Somer, Ayper; Kilic, Mehmet; Reisli, Ismail; Camcioglu, Yildiz; Gennery, Andrew R; Cant, Andrew J; Jones, Alison; Gaspar, Bobby H; Arkwright, Peter D; Pietrogrande, Maria C; Baz, Zeina; Al-Tamemi, Salem; Lougaris, Vassilios; Lefranc, Gerard; Megarbane, Andre; Boutros, Jeannette; Galal, Nermeen; Bejaoui, Mohamed; Barbouche, Mohamed-Ridha; Geha, Raif S; Chatila, Talal A; Grimbacher, Bodo

Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

临床专家报告:ICOS基因第2外显子中一种新的10 bp移码缺失导致联合免疫缺陷,并伴有肠炎和肝炎

Robertson, Nic; Engelhardt, Karin R; Morgan, Neil V; Barge, Dawn; Cant, Andrew J; Hughes, Stephen M; Abinun, Mario; Xu, Yaobo; Koref, Mauro Santibanez; Arkwright, Peter D; Hambleton, Sophie