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

Homozygous Loss of Function PIK3CD Mutation in Multiple Siblings Leading To B Cell Dysregulation and Autoimmunity

多胞胎中PIK3CD纯合功能缺失突变导致B细胞失调和自身免疫

Huda Alajlan ,Amer Al-Mazrou ,Hibah Alruwaili ,Safia Sumayli ,Ali Almehaidib ,Khalid Alsaleem ,Sawsan Abu Awwad ,Hazem Ghebeh ,Monther Al-Alwan ,Anas M Alazami ,Hamoud Al-Mousa

A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report

独特的 STK4 突变仅截断 C 端 SARAH 结构域,尽管出现严重的 T 细胞淋巴细胞减少症,但仍导致轻微的临床表型:病例报告

Bandar Al-Saud, Huda Alajlan, Hibah Alruwaili, Latifa Almoaibed, Amer Al-Mazrou, Hazem Ghebeh, Monther Al-Alwan, Anas M Alazami

PAX1 is essential for development and function of the human thymus

PAX1 对人类胸腺的发育和功能至关重要

Yasuhiro Yamazaki, Raul Urrutia, Luis M Franco, Silvia Giliani, Kejian Zhang, Anas M Alazami, A Kerry Dobbs, Stefania Masneri, Avni Joshi, Francisco Otaizo-Carrasquero, Timothy G Myers, Sundar Ganesan, Maria Pia Bondioni, Mai Lan Ho, Catherine Marks, Huda Alajlan, Reem W Mohammed, Fanggeng Zou, C Al

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

人类白细胞介素-2受体β突变与免疫缺陷和外周耐受性相关

Zinan Zhang #,Florian Gothe #,Perrine Pennamen #,John R James,David McDonald,Carlos P Mata,Yorgo Modis,Anas M Alazami,Meghan Acres,Wolfram Haller,Claire Bowen,Rainer Döffinger,Jan Sinclair,Shannon Brothers,Yu Zhang,Helen F Matthews,Sophie Naudion,Fanny Pelluard,Huda Alajlan,Yasuhiro Yamazaki,Luigi D Notarangelo,James E Thaventhiran,Karin R Engelhardt,Hamoud Al-Mousa,Sophie Hambleton #,Caroline Rooryck #,Kenneth G C Smith #,Michael J Lenardo #

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

患有不同临床皮炎、感染和联合免疫缺陷的患者中发现新的 CARMIL2 突变

Anas M Alazami, Maryam Al-Helale, Safa Alhissi, Bandar Al-Saud, Huda Alajlan, Dorota Monies, Zeeshan Shah, Mohamed Abouelhoda, Rand Arnaout, Hasan Al-Dhekri, Nouf S Al-Numair, Hazem Ghebeh, Farrukh Sheikh, Hamoud Al-Mousa