Immune Dysregulation in Down Syndrome: Implications for Infectious Susceptibility and Vaccine Response

J Clin Immunol. 2026 Jul 24;46(1):86. doi: 10.1007/s10875-026-02054-6. ABSTRACT Down syndrome (DS), caused by trisomy 21, is characterized by complex immune dysregulation that increases susceptibility to infections and alters vaccine responsiveness. Gene dosage effects involving interferon receptor loci on chromosome 21 contribute to chronic type I interferon hyperactivation, sustained JAK-STAT signaling, and persistent expression of … Read more

Elevated IL-10 is Linked With the Expansion of T-bethighCD21low B Cells in Patients With Common Variable Immunodeficiency

J Clin Immunol. 2026 Aug 15;46(1):83. doi: 10.1007/s10875-026-02058-2. ABSTRACT Common variable immunodeficiency (CVID) is frequently complicated by autoimmune and inflammatory manifestations associated with profound immune dysregulation (CVIDc), including expansion of T-bethighCD21low B cells (CD21low B cells). Elevated serum IL-10 levels have repeatedly been reported in CVIDc, yet their relationship to CD21low B-cell differentiation remains unclear. … Read more

IgG4-Related Hepatic Disease Unmasking Hepatic Actinomycosis

J Clin Immunol. 2026 Jul 18. doi: 10.1007/s10875-026-02049-3. Online ahead of print. ABSTRACT 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 disease. CASE DESCRIPTION: A 70-year-old man was admitted to the University Hospital of … Read more

A Detrimental NFKB2 Missense Variant is Associated with Hypogammaglobulinemia

J Clin Immunol. 2026 Jul 11. doi: 10.1007/s10875-026-02051-9. Online ahead of print. ABSTRACT 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 disorders with antibody deficiency, susceptibility to infections and often … Read more

Deciphering B cell Maturation Dynamics in Hyper-IgM Syndromes

J Clin Immunol. 2026 Jul 9. doi: 10.1007/s10875-026-02046-6. Online ahead of print. ABSTRACT 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 established, a detailed comparison of B cell maturation dynamics across HIGM subtypes remains limited. … Read more

Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort

J Clin Immunol. 2026 Jul 8. doi: 10.1007/s10875-026-02044-8. Online ahead of print. ABSTRACT 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 genetically characterized IEI cohort to inform care in this vulnerable population. METHODS: We conducted … Read more

Adult-Onset LRBA Deficiency Presenting with Rheumatoid Arthritis-Like Manifestations: A Case Report

J Clin Immunol. 2026 Jul 6;46(1):73. doi: 10.1007/s10875-026-02048-4. ABSTRACT 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 adult woman diagnosed with rheumatoid arthritis who was subsequently found to have LRBA deficiency based on genetic testing … Read more

Immunopathological Profile of Patients with Thymic Epithelial Tumour and Good Syndrome in Advanced Stage

J Clin Immunol. 2026 Jul 4. doi: 10.1007/s10875-026-02050-w. Online ahead of print. ABSTRACT 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 the immunological profile of TET patients to identify immune alterations associated with GS, independently of autoimmune diseases … Read more

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