Facial Dysmorphism and Severe Vascular Phenotype in TRNT1 Deficiency with Concomitant Antithrombin III Deficiency

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

Intersection Between Systemic Autoimmune Diseases, Primary Immunodeficiency and Cancer: a Field in its Infancy

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

Disseminated Tuberculosis and Early-Onset SLE in a Child with a Novel STAT1 Gain-of-Function Mutation: a Case Report

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

Humoral Immune Abnormalities in Transient Childhood Neutropenia: Insights From a 10-year Cohort Study in a Tertiary Center

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

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

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