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

A Novel Variant of the FERMT3 Gene Associated With Leukocyte Adhesion Deficiency Type III (LAD-III) in a Saudi Family: A Case Series

沙特阿拉伯一个家族中与白细胞黏附缺陷症III型(LAD-III)相关的FERMT3基因新变异:病例系列

Alasmari, Badriah G; Alghubishi, Somayah A; Rayees, Syed; AlDahmashi, Arwa S; Alamri, Sami S; Al Zahrani, Daifulah

Infantile Systemic Hyalinosis: A Case Report and Literature Review

婴儿系统性透明变性:病例报告及文献综述

Mohammed, Samah E; Mohammed, Mohaned M; Saeed, Muhammad; Al Zahrani, Daifulah; Alasmari, Badriah G

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome

网状结构发育不全:临床表现、移植和预后的国际调查

Hoenig, Manfred; Lagresle-Peyrou, Chantal; Pannicke, Ulrich; Notarangelo, Luigi D; Porta, Fulvio; Gennery, Andrew R; Slatter, Mary; Cowan, Morton J; Stepensky, Polina; Al-Mousa, Hamoud; Al-Zahrani, Daifulah; Pai, Sung-Yun; Al Herz, Waleed; Gaspar, Hubert B; Veys, Paul; Oshima, Koichi; Imai, Kohsuke; Yabe, Hiromasa; Noroski, Lenora M; Wulffraat, Nico M; Sykora, Karl-Walter; Soler-Palacin, Pere; Muramatsu, Hideki; Al Hilali, Mariam; Moshous, Despina; Debatin, Klaus-Michael; Schuetz, Catharina; Jacobsen, Eva-Maria; Schulz, Ansgar S; Schwarz, Klaus; Fischer, Alain; Friedrich, Wilhelm; Cavazzana, Marina

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA

LRBA基因功能缺失突变引起的调节性T细胞缺乏和免疫失调、多内分泌病、肠病、X连锁样疾病

Charbonnier, Louis-Marie; Janssen, Erin; Chou, Janet; Ohsumi, Toshiro K; Keles, Sevgi; Hsu, Joyce T; Massaad, Michel J; Garcia-Lloret, Maria; Hanna-Wakim, Rima; Dbaibo, Ghassan; Alangari, Abdullah A; Alsultan, Abdulrahman; Al-Zahrani, Daifulah; Geha, Raif S; Chatila, Talal A

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

免疫缺陷和播散性分枝杆菌感染与IKKβ纯合无义突变相关

Burns, Siobhan O; Plagnol, Vincent; Gutierrez, Beatriz Morillo; Al Zahrani, Daifulah; Curtis, James; Gaspar, Miguel; Hassan, Amel; Jones, Alison M; Malone, Marian; Rampling, Dyanne; McLatchie, Alex; Doffinger, Rainer; Gilmour, Kimberly C; Henriquez, Frances; Thrasher, Adrian J; Gaspar, H Bobby; Nejentsev, Sergey

Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency

干扰素α-2b疗法成功治疗DOCK8缺陷患者的顽固性疣

Al-Zahrani, Daifulah; Raddadi, Ali; Massaad, Michel; Keles, Sevgi; Jabara, Haifa H; Chatila, Talal A; Geha, Raif

Eosinophilic esophagitis in Saudi children: symptoms, histology and endoscopy results

沙特阿拉伯儿童嗜酸性食管炎:症状、组织学和内镜检查结果

Hasosah, Mohammed Y; Sukkar, Ghassan A; Alsahafi, Ashraf F; Thabit, Adel O; Fakeeh, Mohammed E; Al-Zahrani, Daifulah M; Satti, Mohamed B