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

T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.

携带杂合新型 BCL11B p.Asp632fsAla∗91 和 STX11 p.R129P 突变的患者的 T 细胞和 NK 细胞功能

Erra Lorenzo, Colado Ana, Brunello Franco Gino, Prieto Emma, Goris Verónica, Villa Mariana, Oleastro Matías, Martí Marcelo, Pozner Roberto Gabriel, Borge Mercedes, Almejun María Belén

A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

无义 N 端 NFKB2 突变导致以抗体缺陷为主的患者出现单倍体不足

Hye Sun Kuehn, Andrea Bernasconi, Julie E Niemela, Maria Belen Almejun, William Alexander Franco Gallego, Shubham Goel, Jennifer L Stoddard, Ronald Guillermo Peláez Sánchez, Carlos Andrés Arango Franco, Matías Oleastro, Eyal Grunebaum, Zuhair Ballas, Charlotte Cunningham-Rundles, Thomas A Fleisher, 

Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

更正:NFKB2 N 端无义突变导致以抗体缺乏为主的患者出现单倍体功能不全

Kuehn, Hye Sun; Bernasconi, Andrea; Niemela, Julie E; Almejun, Maria Belen; Gallego, William Alexander Franco; Goel, Shubham; Stoddard, Jennifer L; Sánchez, Ronald Guillermo Peláez; Franco, Carlos Andrés Arango; Oleastro, Matías; Grunebaum, Eyal; Ballas, Zuhair; Cunningham-Rundles, Charlotte; Fleisher, Thomas A; Franco, José Luis; Danielian, Silvia; Rosenzweig, Sergio D

Naturally occurring mutation affecting the MyD88-binding site of TNFRSF13B impairs triggering of class switch recombination

影响TNFRSF13B的MyD88结合位点的自然发生的突变会损害类别转换重组的触发。

Almejun, Maria B; Cols, Montserrat; Zelazko, Marta; Oleastro, Matias; Cerutti, Andrea; Oppezzo, Pablo; Cunningham-Rundles, Charlotte; Danielian, Silvia