Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort

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

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

Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV

J Clin Immunol. 2025 May 24;45(1):98. doi: 10.1007/s10875-025-01886-y. ABSTRACT A man living with HIV was found to lack expression of CD16A on his natural killer (NK) cells and monocytes. Genetic analysis revealed compound heterozygous deletion of FCGR3A, the gene encoding CD16A. The case’s NK cells showed: (a) no antibody-dependent cell-mediated cytotoxicity and very low spontaneous … Read more

Chronic Kidney Disease in Common Variable Immunodeficiency: a Multicenter Study

J Clin Immunol. 2025 May 23;45(1):97. doi: 10.1007/s10875-025-01890-2. ABSTRACT PURPOSE: There are few reports of renal involvement in Common Variable Immunodeficiencies (CVID) and, when present, is due to infections, inflammation, or treatments. The aim of this study was evaluating the prevalence of chronic kidney disease (CKD) and to identify CVID-related clinical, laboratory and therapeutic features … Read more

Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID

J Clin Immunol. 2025 May 15;45(1):94. doi: 10.1007/s10875-025-01887-x. ABSTRACT Severe combined immunodeficiency (SCID) is a heterogeneous genetic disease characterized by severe T-cell lymphopenia with a profound impairment of T- and B-cells’ function and, in some types, also NK cells. Hematopoietic cell transplantation (HCT) is the only curative treatment currently available in Brazil. Late diagnosis and … Read more

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