Journal of Clinical Immunology

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

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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

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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

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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

Tofacitinib as a Successful Treatment for Hyper-IgE Syndrome and Autoimmunity Associated with Constitutive Activation of JAK3

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J Clin Immunol. 2026 May 9. doi: 10.1007/s10875-026-02027-9. Online ahead of print. ABSTRACT The Janus Kinase 3 (JAK3) germline gain-of-function (GOF) mutation is a rare inborn error of immunity, first reported in 2020, characterized by lymphopenia and chronic NK-cell proliferation. However, its role in autoimmunity remains unclear, and no direct association with hyper-IgE syndrome (HIES) … Read more

Comprehensive Profiling of T- and B-Cell Receptor Repertoires Demonstrates Impaired Developmental and Activation of Adaptive Immunity in DOCK8 Deficiency

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J Clin Immunol. 2026 May 6. doi: 10.1007/s10875-026-02031-z. Online ahead of print. ABSTRACT Dedicator of cytokinesis protein 8 (DOCK8) is a crucial regulator for the formation of immune synapses, allowing for a proper function of innate and adaptive immune systems. DOCK8 deficiency is a primary immunodeficiency, currently known as Inborn Errors of Immunity (IEI) affecting … Read more

First-in-Human, Phase 1, Randomized, Double-Blind, Placebo-Controlled Study of TNX-1500, an Fc-Modified anti-CD154 Monoclonal Antibody, Evaluating the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Single-Ascending Doses in Healthy Adults

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J Clin Immunol. 2026 Apr 29. doi: 10.1007/s10875-026-02028-8. Online ahead of print. ABSTRACT Blocking CD154 (CD40L) has the potential to prolong transplanted solid organ graft survival and treat autoimmune diseases. However, first-generation anti-CD154 IgG1 monoclonal antibodies (mAbs) were associated with an increased risk of thrombosis linked to Fc binding to FcγRIIa (CD32A). Here, we describe … Read more

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