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
Journal of Clinical Immunology
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
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
Prolonged Postoperative Wound Healing Due to Anti-IL-6 Autoantibody as a Phenocopy of Inborn Errors of Immunity
J Clin Immunol. 2025 May 23;45(1):96. doi: 10.1007/s10875-025-01894-y. NO ABSTRACT PMID:40407925 | DOI:10.1007/s10875-025-01894-y
Correction to: Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI)
J Clin Immunol. 2025 May 16;45(1):95. doi: 10.1007/s10875-025-01893-z. NO ABSTRACT PMID:40377753 | DOI:10.1007/s10875-025-01893-z
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
Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis
J Clin Immunol. 2025 May 13;45(1):92. doi: 10.1007/s10875-025-01880-4. ABSTRACT BACKGROUND: Although some reports indicate ocular involvement in Inborn Errors of Immunity (IEI) patients, the characteristics of this association remain unclear. Increased awareness can facilitate early diagnosis and prevention of visual complications. OBJECTIVE: To determine the prevalence and characterize ophthalmological manifestations in patients with IEI. METHODS: … Read more