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

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

遗传性GATA2缺陷通过单倍体不足表现为显性遗传,并表现出不完全临床外显率

Carmen Oleaga-Quintas ,Edgar Borges de Oliveira-Júnior # ,Jérémie Rosain # ,Franck Rapaport # ,Caroline Deswarte # ,Antoine Guérin # ,Sairaj Munavar Sajjath # ,Yu Jerry Zhou # ,Stéphane Marot # ,Claire Lozano # ,Lidia Branco ,Nuria Fernández-Hidalgo ,Dukhee Betty Lew ,Anne-Sophie Brunel ,Caroline Thomas ,Elise Launay ,Andrés Augusto Arias ,Alexis Cuffel ,Vanesa Cunill Monjo ,Anna-Lena Neehus ,Laura Marques ,Manon Roynard ,Marcela Moncada-Vélez ,Bengü Gerçeker ,Roger Colobran ,Marie-Gabrielle Vigué ,Gabriela Lopez-Herrera ,Laura Berron-Ruiz ,Nora Hilda Segura Méndez ,Patricia O'Farrill Romanillos ,Tom Le Voyer ,Anne Puel ,Christine Bellanné-Chantelot ,Kacy A Ramirez ,Lazaro Lorenzo-Diaz ,Noé Ramirez Alejo ,Rebeca Pérez de Diego ,Antonio Condino-Neto ,Fethi Mellouli ,Carlos Rodriguez-Gallego ,Torsten Witte ,José Franco Restrepo ,Mariana Jobim ,Stéphanie Boisson-Dupuis ,Eric Jeziorski ,Claire Fieschi ,Guillaume Vogt ,Jean Donadieu ,Marlène Pasquet ,Julia Vasconcelos ,Fatma Omur Ardeniz ,Mónica Martínez-Gallo ,Regis A Campos ,Luiz Fernando Jobim ,Rubén Martínez-Barricarte ,Kang Liu ,Aurélie Cobat # ,Laurent Abel # ,Jean-Laurent Casanova # ,Jacinta Bustamante

Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation

流式细胞术对免疫失调原发性免疫缺陷疾病的诊断和免疫病理学表征的贡献

Otavio Cabral-Marques, Lena F Schimke, Edgar Borges de Oliveira Jr, Nadia El Khawanky, Rodrigo Nalio Ramos, Basel K Al-Ramadi, Gesmar Rodrigues Silva Segundo, Hans D Ochs, Antonio Condino-Neto

A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis

CYBB基因C126R新发突变导致X连锁慢性肉芽肿病,伴有复发性肺炎和卡介苗炎

de Albuquerque, Jose Antonio Tavares; de Oliveira Junior, Edgar Borges; Zurro, Nuria Bengala; Vendramini, Paola; Ishizuka, Edson Kiyotaka; Borgli, Daniela de Souza Paiva; de Souza, Monica Soares; Condino-Neto, Antonio