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

Expanding the clinical spectrum of interleukin-2 receptor alpha chain deficiency: two novel cases with long-term hematopoietic stem cell transplantation outcome and literature review

拓展白细胞介素-2受体α链缺乏症的临床谱:两例造血干细胞移植长期疗效的新病例及文献综述

Alzubedy, Maha; Osman, Ahmed Sayed; Alajlan, Huda; Alazami, Anas M; Al-Mousa, Hamoud

Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort

单基因狼疮的遗传和表型图谱:来自国际队列研究的启示

Al-Mayouf, Sulaiman M; Ziaee, Vahid; Movahedi, Nasim; Kostik, Mikhail; Alhuthil, Raghad; Alsonbul, Abdullah; Asiri, Abdulrahman; Volpi, Stefano; Gattorno, Marco; Majeed, Mahmoud; Al Abrawi, Safiya; Yateem, Mada; Alharthi, Ashwag; Al-Saoud, Sima; Alazami, Anas M; AlSaleem, Alhanouf

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

Clinical, immunological, molecular characteristics and outcomes of stem cell transplantation in ZAP70 deficiency: a single-center experience

ZAP70缺陷患者干细胞移植的临床、免疫学、分子特征及预后:单中心经验

AlQahtani, Fai; Al Shaqaq, Azhar; Al-Saud, Bandar; AlRumayyan, Nora; Mohammed, Reem; Arnaout, Rand; Elshorbagi, Sahar; Albuhairi, Sultan; Al-Ahmari, Ali; Ayas, Mouhab; Al-Saedi, Hawazen; Hawwari, Abbas; Alazami, Anas M; Al-Mousa, Hamoud

Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency

造血干细胞移植可纠正IL-2Rβ缺乏症

AlQahtani, Fai; AlGhamdi, Manar; AlZahrani, Mofareh; AlAzami, Anas M; Al-Buhairi, Sultan; Al-Mousa, Hamoud

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

Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity

由纯合DNA连接酶1突变体引起的重症联合免疫缺陷,该突变体催化活性降低但连接保真度增加

Alajlan, Huda; Raducanu, Vlad-Stefan; Lopez de Los Santos, Yossef; Tehseen, Muhammad; Alruwaili, Hibah; Al-Mazrou, Amer; Mohammad, Reem; Al-Alwan, Monther; De Biasio, Alfredo; Merzaban, Jasmeen S; Al-Mousa, Hamoud; Hamdan, Samir M; Alazami, Anas M

Calotropis procera: A double edged sword against glioblastoma, inhibiting glioblastoma cell line growth by targeting histone deacetylases (HDAC) and angiogenesis

Calotropis procera:对抗胶质母细胞瘤的双刃剑,通过靶向组蛋白去乙酰化酶 (HDAC) 和血管生成来抑制胶质母细胞瘤细胞系的生长

Shamsa Hilal Saleh Alanazi, Muhammad Farooq Khan, Anas M Alazami, Almohannad Baabbad, Mohammad Ahmed Wadaan

ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis

一名患有间质性肺炎和外周血单核细胞增多症的儿童被诊断为 ZNFX1 缺乏症

Al-Saud, Bandar; Alshareef, Turki; Al-Alwan, Monther; Alazami, Anas M

Clinical and Immunological Features of Human BCL10 Deficiency

人类 BCL10 缺陷的临床和免疫学特征

Blanca Garcia-Solis, Ana Van Den Rym, Jareb J Pérez-Caraballo, Abdulwahab Al-Ayoubi, Anas M Alazami, Lazaro Lorenzo, Carolina Cubillos-Zapata, Eduardo López-Collazo, Antonio Pérez-Martínez, Luis M Allende, Janet Markle, Miguel Fernández-Arquero, Silvia Sánchez-Ramón, Maria J Recio, Jean-Laurent Casa