Journal of Clinical Immunology

Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review

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J Clin Immunol. 2025 Jun 19;45(1):108. doi: 10.1007/s10875-025-01895-x. ABSTRACT Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) is the commonest cause of familial hemophagocytic lymphohistiocytosis (FHLH). In this retrospective study, we analyzed 8 patients with a genetic diagnosis of FHL2 and then examined their clinicopathological and perforin flow cytometry results (< 10% expression). The atypical clinical features … Read more

BK Virus-Specific T Cell Response Associated with HLA Genotypes, RhD Status, and CMV or EBV Serostatus in Healthy Donors for Optimized Cell Therapy

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J Clin Immunol. 2025 Jun 19;45(1):109. doi: 10.1007/s10875-025-01901-2. ABSTRACT PURPOSE: The increasing application of virus-specific T cell therapy for treating BK virus infections in immunocompromised patients highlights the necessity for rapid identification of compatible cell donors with optimal BK-specific T cell response. This study aims to characterize the BK virus-specific T cell response in relation … Read more

NET Proteomic Profiling Reveals New Pathways Potentially Implicated in Dendritic Cell-Mediated Inflammation in DADA2 Patients

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J Clin Immunol. 2025 Jun 16;45(1):106. doi: 10.1007/s10875-025-01888-w. ABSTRACT PURPOSE: Adenosine deaminase 2 Deficiency (DADA2) is an autoinflammatory disease characterized by systemic vasculopathy, strokes and mild immunodeficiency. Recently NETosis has been implicated in the pathogenesis of Deficiency of Adenosine Deaminase 2. To deep investigate the possible effects of NETs on the immune system we characterized … Read more

Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?

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J Clin Immunol. 2025 Jun 10;45(1):104. doi: 10.1007/s10875-025-01898-8. ABSTRACT Familial Mediterranean Fever (FMF) is caused by mutations in the MEFV gene, which encodes for pyrin. Although genetic testing is commonly employed for FMF diagnosis, the interpretation of genetic results is often challenging. Therefore, we aimed to functionally characterise the p.R202Q MEFV alteration. Furthermore, we hypothesized … Read more

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort

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J Clin Immunol. 2025 Jun 3;45(1):103. doi: 10.1007/s10875-025-01884-0. ABSTRACT BACKGROUND: DiGeorge Syndrome (DGS), a microdeletion syndrome, shows a broad spectrum from mild T-cell lymphopenia to severe combined immunodeficiency. AIM: To define the clinical/immunophenotypical biomarkers for DGS. PATIENTS AND METHODS: A total of 72 patients with 22q11.2 deletion(n = 66) and those fulfilling the DGS criteria … Read more

From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity

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J Clin Immunol. 2025 May 27;45(1):100. doi: 10.1007/s10875-025-01892-0. ABSTRACT TLR7, which encodes a key receptor for single-stranded RNA (ssRNA) virus of the innate immune system, was recently associated with X-linked immunodeficiency and COVID-19 susceptibility. This study investigates the association between TLR7 variants and susceptibility to severe COVID-19 in a multicentric Spanish cohort. The TLR7 gene … Read more

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