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

Autoinflammatory disease and severe neutropenia due to de novo variant of PSTPIP1 with increased binding to pyrin

由于PSTPIP1基因新生变异导致与pyrin蛋白结合增强,从而引发自身炎症性疾病和严重中性粒细胞减少症。

Cook, Sarah; Nomula, Kranthi; Cross, Claire E; Gil, Hwi M; Choi, Joseph M; Kaviany, Saara; Connelly, James A; Chang, Christopher C; Markle, Janet G

Primary Amoebic Meningoencephalitis caused by Complement C2 Deficiency

由补体C2缺乏引起的原发性阿米巴脑膜脑炎

Cui, Jian; Roark, Colleen M; Domínguez-Pinilla, Nerea; Nozal Aranda, Pilar; Losada, Begoña; Zamarrón, Pilar; Lorenzo-Morales, Jacob; Rubio Muñoz, José Miguel; Dobrose, Megan M; Van den Rym, Ana; Allende, Luis M; Shelton, Catherine; Reyna, Dante E; Markle, Janet G; Rodríguez de Córdoba, Santiago; Lopez-Trascasa, Margarita; Pérez de Diego, Rebeca; Serezani, C Henrique; Byndloss, Mariana X; de Fuentes Corripio, Isabel; González-Granado, Luis Ignacio; Martinez-Barricarte, Ruben

Functional overlap of inborn errors of immunity and metabolism genes defines T cell metabolic vulnerabilities.

先天性免疫缺陷和代谢缺陷基因的功能重叠决定了T细胞的代谢脆弱性

Patterson Andrew R, Needle Gabriel A, Sugiura Ayaka, Jennings Erin Q, Chi Channing, Steiner KayLee K, Fisher Emilie L, Robertson Gabriella L, Bodnya Caroline, Markle Janet G, Sheldon Ryan D, Jones Russell G, Gama Vivian, Rathmell Jeffrey C

Expanding the molecular and phenotypic spectrum of CTLA-4 insufficiency

扩展 CTLA-4 功能不全的分子和表型谱

Duke, Sean; Maiarana, James; Yousefi, Pariya; Burks, Elijah; Gerrie, Samantha; Setiadi, Audi; Hildebrand, Kyla J; James, Elliot; Turvey, Stuart E; Markle, Janet G; Biggs, Catherine M

Case Report: Infantile Urticaria as a Herald of Neonatal Onset Multisystem Inflammatory Disease With a Novel Mutation in NLRP3

病例报告:婴儿荨麻疹是新生儿期发病的多系统炎症性疾病的先兆,该疾病伴有NLRP3基因的新突变

Patrick, Anna E; Lyons, Eden M; Ishii, Lisa; Boyd, Alan S; Choi, Joseph M; Dewan, Anna K; Markle, Janet G

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

人类对分枝杆菌的IFN-γ免疫反应受IL-12和IL-23的共同调控。

Martínez-Barricarte, Rubén; Markle, Janet G; Ma, Cindy S; Deenick, Elissa K; Ramírez-Alejo, Noé; Mele, Federico; Latorre, Daniela; Mahdaviani, Seyed Alireza; Aytekin, Caner; Mansouri, Davood; Bryant, Vanessa L; Jabot-Hanin, Fabienne; Deswarte, Caroline; Nieto-Patlán, Alejandro; Surace, Laura; Kerner, Gaspard; Itan, Yuval; Jovic, Sandra; Avery, Danielle T; Wong, Natalie; Rao, Geetha; Patin, Etienne; Okada, Satoshi; Bigio, Benedetta; Boisson, Bertrand; Rapaport, Franck; Seeleuthner, Yoann; Schmidt, Monika; Ikinciogullari, Aydan; Dogu, Figen; Tanir, Gonul; Tabarsi, Payam; Bloursaz, Mohammed Reza; Joseph, Julia K; Heer, Avneet; Kong, Xiao-Fei; Migaud, Mélanie; Lazarov, Tomi; Geissmann, Frédéric; Fleckenstein, Bernhard; Arlehamn, Cecilia Lindestam; Sette, Alessandro; Puel, Anne; Emile, Jean-François; van de Vosse, Esther; Quintana-Murci, Lluis; Di Santo, James P; Abel, Laurent; Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; Tangye, Stuart G; Sallusto, Federica; Casanova, Jean-Laurent

The mutation significance cutoff: gene-level thresholds for variant predictions

突变显著性阈值:基因水平的变异预测阈值

Itan, Yuval; Shang, Lei; Boisson, Bertrand; Ciancanelli, Michael J; Markle, Janet G; Martinez-Barricarte, Ruben; Scott, Eric; Shah, Ishaan; Stenson, Peter D; Gleeson, Joseph; Cooper, David N; Quintana-Murci, Lluis; Zhang, Shen-Ying; Abel, Laurent; Casanova, Jean-Laurent

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

免疫缺陷。携带双等位基因 RORC 突变的人类对念珠菌和分枝杆菌的免疫力受损。

Okada, Satoshi; Markle, Janet G; Deenick, Elissa K; Mele, Federico; Averbuch, Dina; Lagos, Macarena; Alzahrani, Mohammed; Al-Muhsen, Saleh; Halwani, Rabih; Ma, Cindy S; Wong, Natalie; Soudais, Claire; Henderson, Lauren A; Marzouqa, Hiyam; Shamma, Jamal; Gonzalez, Marcela; Martinez-Barricarte, Rubén; Okada, Chizuru; Avery, Danielle T; Latorre, Daniela; Deswarte, Caroline; Jabot-Hanin, Fabienne; Torrado, Egidio; Fountain, Jeffrey; Belkadi, Aziz; Itan, Yuval; Boisson, Bertrand; Migaud, Mélanie; Arlehamn, Cecilia S Lindestam; Sette, Alessandro; Breton, Sylvain; McCluskey, James; Rossjohn, Jamie; de Villartay, Jean-Pierre; Moshous, Despina; Hambleton, Sophie; Latour, Sylvain; Arkwright, Peter D; Picard, Capucine; Lantz, Olivier; Engelhard, Dan; Kobayashi, Masao; Abel, Laurent; Cooper, Andrea M; Notarangelo, Luigi D; Boisson-Dupuis, Stéphanie; Puel, Anne; Sallusto, Federica; Bustamante, Jacinta; Tangye, Stuart G; Casanova, Jean-Laurent