Novel Partial Loss-of-function STAT3-variant as Cause of Hyper-IgE-Syndrome in a Danish Family with Variable Expressivity

J Clin Immunol. 2026 Jun 8. doi: 10.1007/s10875-026-02036-8. Online ahead of print. ABSTRACT A novel heterozygous missense variant in STAT3 (NM_139276.3: c.1250G > C, NP_644805.1: p.(Arg417Thr) was identified in a Danish family spanning five generations with diverse phenotypes consistent with autosomal dominant STAT3-Hyper-IgE-Syndrome (STAT3-HIES). Genetic analysis confirmed the absence of the variant in population databases, … Read more

Systematic Review and Meta-analysis of Anti-interferon Auto-antibodies in Infectious Diseases

J Clin Immunol. 2026 Jun 9. doi: 10.1007/s10875-026-02038-6. Online ahead of print. ABSTRACT PURPOSE: To perform a systematic review and meta-analysis of prevalence and function of anti-interferon auto-antibodies in acute infectious diseases. METHODS: We performed a search on the following electronic bibliographic databases: Medline, Embase, Web of Science and Cochrane. Eligible studies generated a systematic … Read more

Retrieval-Augmented Language Models for Clinical Decision Support in the Classification of Inborn Errors of Immunity

J Clin Immunol. 2026 Jun 5. doi: 10.1007/s10875-026-02035-9. Online ahead of print. ABSTRACT Early diagnosis of inborn errors of immunity (IEIs) can make a difference in patient outcomes and even cut healthcare costs. However, there are some challenges to overcome, such as clinical complexity, low awareness, and limited resources. Generative artificial intelligence has attracted considerable … Read more

Clinical Cognition and Practice in Anti-Interferon-γ Autoantibody-Associated Immunodeficiency Syndrome

J Clin Immunol. 2026 Jun 2. doi: 10.1007/s10875-026-02039-5. Online ahead of print. ABSTRACT Adult-onset immunodeficiency syndrome mediated by anti-interferon-gamma autoantibody (AIGA) is a rare disorder that has garnered increasing recognition in recent years. The condition is most prevalent among adults in Southeast Asia. It is characterized by recurrent disseminated opportunistic infections, frequently involving multiple organ … Read more

A Novel MSN Mutation Impairs CD4+ T cell Differentiation and Drives Autoantibody Production

J Clin Immunol. 2026 May 22. doi: 10.1007/s10875-026-02034-w. Online ahead of print. ABSTRACT PURPOSE: To report a patient with a novel MSN mutation causing X-linked moesin-associated immunodeficiency (X-MAID) and investigate its pathogenic mechanisms. METHODS: Clinical and immunological data of the patient were collected. Autoantibody levels were measured using antigen microarrays. Whole-exome sequencing was performed to … Read more

Autoimmune Retinopathy Complicating TLR7-related Monogenic Interferonopathy

J Clin Immunol. 2026 May 20. doi: 10.1007/s10875-026-02033-x. Online ahead of print. ABSTRACT Gain-of-function variants in the TLR7 gene have been associated with a spectrum of clinical manifestations, including systemic lupus erythematosus (SLE)-like disease, neuromyelitis optica, and progressive leukoencephalopathy. The p.(Leu528Ile) variant has previously been shown to underlie this constellation of findings. Here, we report … Read more

Genetic Diagnosis and Identification of a Novel De Novo RELA Variant in Familial Behçet-like Autoinflammatory Syndrome Type 3: A Case Report

J Clin Immunol. 2026 May 19. doi: 10.1007/s10875-026-02026-w. Online ahead of print. ABSTRACT OBJECTIVE: To perform genetic diagnosis and pedigree analysis in a case of autosomal dominant Familial Behçet-like Autoinflammatory Syndrome type 3 (AIFBL3) caused by a novel RELA variant. METHODS: Peripheral blood samples collected from the proband and parents underwent conventional genetic screening, next-generation … Read more

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