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
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
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
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
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
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
J Clin Immunol. 2026 Jun 27. doi: 10.1007/s10875-026-02047-5. Online ahead of print. ABSTRACT 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 deficiency presenting with characteristic hematologic and immunologic abnormalities and a distinctive facial … Read more
J Clin Immunol. 2026 Jun 25. doi: 10.1007/s10875-026-02030-0. Online ahead of print. ABSTRACT 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 clinical evidence challenges this dichotomy, revealing a shared spectrum of immune dysregulation, genetic vulnerability, and convergent phenotypes. Advances … Read more
J Clin Immunol. 2026 Jun 19;46(1):67. doi: 10.1007/s10875-026-02040-y. ABSTRACT 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 individuals often display a broader phenotype including viral infections, mycobacterial susceptibility, and autoimmune diseases. CASE PRESENTATION: We describe a … Read more
J Clin Immunol. 2026 Jun 18. doi: 10.1007/s10875-026-02042-w. Online ahead of print. ABSTRACT 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 poorly understood. METHODS: The current study investigated this relationship through a retrospective cohort analysis at a … Read more
