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

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.

部分 RAG 缺乏症炎症性肠病的免疫病理学和微生物学特征

Castagnoli Riccardo, Pala Francesca, Subramanian Poorani, Oguz Cihan, Schwarz Benjamin, Lim Ai Ing, Burns Andrew S, Fontana Elena, Bosticardo Marita, Corsino Cristina, Angelova Angelina, Delmonte Ottavia M, Kenney Heather, Riley Deanna, Smith Grace, Ott de Bruin Lisa, Oikonomou Vasileios, Dos Santos Dias Lucas, Fink Danielle, Bohrnsen Eric, Kimzey Cole D, Marseglia Gian Luigi, Alva-Lozada Guisela, Bergerson Jenna R E, Brett Ana, Brigatti Karlla W, Dimitrova Dimana, Dutmer Cullen M, Freeman Alexandra F, Ale Hanadys, Holland Steven M, Licciardi Francesco, Pasic Srdjan, Poskitt Laura E, Potts David E, Dasso Joseph F, Sharapova Svetlana O, Strauss Kevin A, Ward Brant R, Yilmaz Melis, Kuhns Douglas B, Lionakis Michail S, Daley Stephen R, Kong Heidi H, Segre Julia A, Villa Anna, Pittaluga Stefania, Walter Jolan E, Vujkovic-Cvijin Ivan, Belkaid Yasmine, Notarangelo Luigi D

Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations

病例报告:一家族中发现一种新的CXCR4变异(p.S341Y),该家族同时存在致病性NFKB1变异和多种临床表现。

Yilmaz, Melis; Zmajkovicova, Katarina; Miller, Rahim Z; Blair, Grace; Ellison, Maryssa; Ujhazi, Boglarka; Lopez, Maria Chitty; Dasso, Joseph F; Bledsoe, Jacob R; Csomos, Krisztian; Maierhofer, Barbara; Badarau, Adriana; Pereira, Joao P; Kanarek, Henry; Geier, Christoph B; Walter, Jolan E

Piloting an automated query and scoring system to facilitate APDS patient identification from health systems

试点应用自动化查询和评分系统,以促进从医疗系统中识别 APDS 患者

FitzPatrick, Amy M; Chin, Aaron T; Nirenberg, Sharon; Cunningham-Rundles, Charlotte; Sacco, Keith; Perlmutter, Jesse; Dasso, Joseph F; Tsalatsanis, Athanasios; Maru, Jay; Creech, Jessica; Walter, Jolan E; Hartog, Nicholas; Izadi, Neema; Palmucci, Mandy; Butte, Manish J; Loewy, Klaus; Relan, Anurag; Rider, Nicholas L

Infant with diffuse large B-cell lymphoma identified postmortem with homozygous founder Slavic RAG1 variant: a case report and literature review

一例弥漫性大B细胞淋巴瘤患儿尸检发现携带纯合子斯拉夫裔RAG1变异基因:病例报告及文献综述

Volodashchik, Tatiana P; Polyakova, Ekaterina A; Mikhaleuskaya, Taisia M; Sakovich, Inga S; Kupchinskaya, Aleksandra N; Dubrouski, Aliaxandr Ch; Belevtsev, Mikhail V; Dasso, Joseph F; Varabyou, Dzmitry S; Notarangelo, Luigi D; Walter, Jolan E; Sharapova, Svetlana O

Case Report: Initial Treatment Adjustments and Complications in Ovarian Cancer Patient With Inborn Error of Immunity

病例报告:先天性免疫缺陷卵巢癌患者的初始治疗调整及并发症

Mammadova, Jamila; Redden, Anna; Cruz, Rachel; Ujhazi, Boglarka; Ellison, Maryssa; Gatewood, Tyra; Duff, Carla; Canella, Anthony; Somboonwit, Charurut; Sriaroon, Chakrapol; Dasso, Joseph F; Harville, Terry; Ismail-Khan, Roohi; Walter, Jolan E; Gordon, Sumai

Corrigendum: Case report: Initial treatment adjustments and complications in ovarian cancer patient with inborn error of immunity

更正:病例报告:患有先天性免疫缺陷的卵巢癌患者的初始治疗调整及并发症

Mammadova, Jamila; Redden, Anna; Cruz, Rachel; Ujhazi, Boglarka; Gordon, Sumai; Ellison, Maryssa; Gatewood, Tyra; Duff, Carla; Cannella, Anthony; Somboonwit, Charurut; Sriaroon, Chakrapol; Csomos, Krisztian; Dasso, Joseph F; Harville, Terry; Ismail-Khan, Roohi; Walter, Jolan E

Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort

儿童自身免疫性血细胞减少症的原发性免疫缺陷:154例患者回顾性队列研究

Westermann-Clark, Emma; Meehan, Cristina Adelia; Meyer, Anna K; Dasso, Joseph F; Amre, Devendra; Ellison, Maryssa; Patel, Bhumika; Betensky, Marisol; Hauk, Charles Isaac; Mayer, Jennifer; Metts, Jonathan; Leiding, Jennifer W; Sriaroon, Panida; Kumar, Ambuj; Ayala, Irmel; Walter, Jolan E

Approaches to patients with variants in RAG genes: from diagnosis to timely treatment

RAG基因变异患者的诊疗方法:从诊断到及时治疗

Bulkhi, Adeeb A; Dasso, Joseph F; Schuetz, Catharina; Walter, Jolan E

IN TIME: THE VALUE AND GLOBAL IMPLICATIONSOF NEWBORN SCREENING FORSEVERE COMBINED IMMUNODEFICIENCY

及时:新生儿严重联合免疫缺陷筛查的价值和全球意义

Meehan, Cristina; Bonfim, Carmem; Dasso, Joseph F; Costa-Carvalho, Beatriz Tavares; Condino-Neto, Antonio; Walter, Jolan