Correction to: Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID
J Clin Immunol. 2025 Jun 16;45(1):107. doi: 10.1007/s10875-025-01902-1. NO ABSTRACT PMID:40522394 | DOI:10.1007/s10875-025-01902-1
Journal of Clinical Immunology
NET Proteomic Profiling Reveals New Pathways Potentially Implicated in Dendritic Cell-Mediated Inflammation in DADA2 Patients
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
Safety and Efficacy of Intravenous Immune Globulin 10% (BIVIGAM®) in Children with Primary Immune Deficiency
J Clin Immunol. 2025 Jun 11;45(1):105. doi: 10.1007/s10875-025-01891-1. NO ABSTRACT PMID:40498215 | DOI:10.1007/s10875-025-01891-1
Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?
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
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
Genetics in a Danish Common Variable Immunodeficiency Cohort
J Clin Immunol. 2025 Jun 2;45(1):102. doi: 10.1007/s10875-025-01896-w. NO ABSTRACT PMID:40455168 | DOI:10.1007/s10875-025-01896-w
Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12
J Clin Immunol. 2025 May 29;45(1):101. doi: 10.1007/s10875-025-01889-9. NO ABSTRACT PMID:40439792 | DOI:10.1007/s10875-025-01889-9
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
Mosaicism in Two Patients with COPA Syndrome
J Clin Immunol. 2025 May 26;45(1):99. doi: 10.1007/s10875-025-01883-1. NO ABSTRACT PMID:40419794 | DOI:10.1007/s10875-025-01883-1
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