Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review [0.03%]
TRNT1基因突变所致铁粒幼贫血伴B细胞免疫缺陷、周期性发热和发育迟缓的预后因素：病例报告及系统回顾
Tzu-Hsuan Su,Ni-Chung Lee,Li-Chieh Wang et al.
Tzu-Hsuan Su et al.
Characterisation of a Leaky Splice-Site Mutation Associated with Phenotypic Diversity in Two Unrelated Patients with ARPC1B Deficiency [0.03%]
ARPC1B缺乏症两个无关患者的表型多样性相关漏 splice-site突变的特征刻画
Alex Quach,Jovanka King,Trishni Putty et al.
Alex Quach et al.
The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants [0.03%]
安纳托利亚中部三级参考中心ZAP-70变异携带儿童的诊疗经验，包括两个新型变异
Serdar Göktaş,Ozlem Kalaycik Sengul,Şerife Erdem et al.
Serdar Göktaş et al.
Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant [0.03%]
两个携带UNC13D变异位点的类似CLIPPERS综合征的病例报告
Hirotaka Sagawa,Kosei Hirata,Saori Katayama et al.
Hirotaka Sagawa et al.
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) syndrome is a central nervous system (CNS) inflammatory disease characterized by contrast-enhanced MRI findings of salt-and-pepper-like...
Unraveling BCR Repertoire Diversity and its Impact on Glucocorticoid Therapy in Pediatric Idiopathic Nephrotic Syndrome [0.03%]
儿童原发性肾病综合征中BCR库多样性及其对糖皮质激素治疗的影响
Yeping Luo,Chan Zou,Xinjie Yu et al.
Yeping Luo et al.
Aim: Idiopathic nephrotic syndrome (INS) is the most common glomerular disease in children, but its underlying mechanisms remain unclear. Although glucocorticoids (GC) are the first-line treatment, approximately 10% of IN...
Porto-sinusoidal Vascular Disease is Associated with Gastrointestinal Disorders in Common Variable Immunodefiency [0.03%]
Porto-窦性血管疾病与常见变量免疫缺陷患者的胃肠病有关
Emilie Corvilain,Laurence Gérard,Jehane Fadlallah et al.
Emilie Corvilain et al.
Primary Immunodeficiency Diseases with BCG-Induced Diseases: A 15-Year Longitudinal Cohort Study [0.03%]
卡介苗致病的原发性免疫缺陷病：一项为期十五年的纵向队列研究
Lu Xia,Yang Yang,Xue-Ying Li et al.
Lu Xia et al.
Fatal Systemic Granulomatous Disease Associated with Vaccine-Derived Rubella Virus in AIOLOS-Associated Immunodeficiency [0.03%]
与AIOLOS相关免疫缺陷患者中疫苗衍生的风疹病毒所致致命系统性肉芽肿病病例报告
Linda Zhou,Hye Sun Kuehn,Dayna Gager et al.
Linda Zhou et al.
A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations [0.03%]
6种新突变的38例Wiskott-Aldrich综合征患者的队列研究
Anahita Razaghian,Mohsen Badalzadeh,Amir Ali Hamidieh et al.
Anahita Razaghian et al.
TFRC Germline Variants and Inborn Error of Immunity: Mechanistic Insights into Iron-Immune Crosstalk [0.03%]
铁免疫互作的机制洞察：源自TFRC基因变异和先天性免疫缺陷病患者的证据
Amal H Aljohani
Amal H Aljohani