Anissa Desmoulin,Jasmine Muyard,Laure-Marie Dardaud et al.
Anissa Desmoulin et al.
Purpose: Hepatic actinomycosis is a rare granulomatous disease caused by an opportunistic Gram-positive bacillus of the genus Actinomyces. We report an unusual association between hepatic actinomycosis and IgG-4 related d...
A Detrimental NFKB2 Missense Variant is Associated with Hypogammaglobulinemia [0.03%]
NFKB2 missense变异与低免疫球蛋白血症相关性研究
Manfred Fliegauf,Laura Gamez-Diaz,Pavla Mrovecova et al.
Manfred Fliegauf et al.
NFKB2 encodes the precursor p100 which undergoes processing to generate the mature NF-κB2 transcription factor subunit p52. Most of the known pathogenic NFKB2 variants render p100 un-processable and are typically linked to immunodeficiency...
Hande Üçler Çınar,Murat Cansever,Şerife Erdem et al.
Hande Üçler Çınar et al.
Purpose: Hyper-IgM syndromes (HIGM) are primary immunodeficiencies characterized by defective class-switch recombination (CSR) and impaired humoral immunity. While genetic causes such as CD40L and AICDA mutations are well...
Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort [0.03%]
遗传性特征明确的免疫缺陷病患者支气管扩张的患病率、预测因素及心肺并发症
Diana Marangu-Boore,Katherine Myint-Hpu,Esther Kang et al.
Diana Marangu-Boore et al.
Purpose: Bronchiectasis poses a serious but incompletely defined burden in patients with inborn errors of immunity (IEI). We determined its prevalence, independent predictors, and cardiopulmonary complications in a geneti...
Adult-Onset LRBA Deficiency Presenting with Rheumatoid Arthritis-Like Manifestations: A Case Report [0.03%]
成人发病的LRBA缺陷症以类风湿关节炎样表现为首发表现：一例报告
Keita Ninagawa,Yuki Kudo,Michihito Kono et al.
Keita Ninagawa et al.
Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency is a primary inborn error of immunity characterized by immune dysregulation and frequently associated with autoimmune connective tissue manifestations. We describe an...
Immunopathological Profile of Patients with Thymic Epithelial Tumour and Good Syndrome in Advanced Stage [0.03%]
晚期胸腺上皮肿瘤合并Good综合征患者的免疫病理特征分析
Fabiana Napolitano,Erica Pietroluongo,Michele Francesco Di Tolla et al.
Fabiana Napolitano et al.
Purpose: Thymic epithelial tumors (TETs) are associated with Good Syndrome (GS), a secondary immunodeficiency characterized by hypogammaglobulinemia, B-cell lymphopenia, and recurrent infections. This study investigated t...
Facial Dysmorphism and Severe Vascular Phenotype in TRNT1 Deficiency with Concomitant Antithrombin III Deficiency [0.03%]
TRNT1缺陷并发抗凝血酶III缺乏的面部畸形和严重的血管表型
David M Matea,Smaranda T Arghirescu,Adela Chirita-Emandi et al.
David M Matea et al.
TRNT1 deficiency (SIFD syndrome) is a rare inborn error of immunity characterized by sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay. We report two Romanian patients with genetically confirmed TRNT1 deficien...
Intersection Between Systemic Autoimmune Diseases, Primary Immunodeficiency and Cancer: a Field in its Infancy [0.03%]
自身免疫疾病、原发性免疫缺陷和癌症之间的交集：一个尚处于起步阶段的研究领域
Silvia Sánchez-Ramón,Ana Isabel Ramos-Lisbona,Mohammed Yousuf Karim
Silvia Sánchez-Ramón
Purpose: Systemic autoimmune diseases and primary immunodeficiencies/inborn errors of immunity (PIDs/IEIs) have traditionally been viewed as opposing immunological entities. However, growing genetic, immunological, and cl...
Disseminated Tuberculosis and Early-Onset SLE in a Child with a Novel STAT1 Gain-of-Function Mutation: a Case Report [0.03%]
STAT1新功能获得性基因突变患儿的播散型结核和早期系统性红斑狼疮1例报告
Serkan Arslan,Ahmet Sert,Meryem Özçelik et al.
Serkan Arslan et al.
Background: Gain-of-function (GOF) mutations in the STAT1 gene result in heightened interferon signaling and impaired IL-17 immunity. While chronic mucocutaneous candidiasis (CMC) remains the hallmark feature, affected in...
Humoral Immune Abnormalities in Transient Childhood Neutropenia: Insights From a 10-year Cohort Study in a Tertiary Center [0.03%]
一例儿童暂时性中性粒细胞减少症患者的体液免疫异常：来自一家三级医疗机构的十年队列研究启示
Emmanuele Schorn,Maarja Soomann,Seraina Prader et al.
Emmanuele Schorn et al.
Purpose: Transient neutropenia in early childhood is a relatively common condition often associated with neutrophil-specific autoantibodies; however, its connection to broader humoral immune system abnormalities remains p...