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
Journal of Clinical Immunology
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
Deepening Understanding of the Clinical Features and Diagnostic Approaches to Anti-Interferon-Gamma Autoantibody Associated Adult-Onset Immunodeficiency in the Last 20 Years: A Case Report and Literature Review
J Clin Immunol. 2025 May 13;45(1):93. doi: 10.1007/s10875-025-01885-z. ABSTRACT Anti-interferon-gamma autoantibody (AIGA)-associated adult-onset immunodeficiency (AOID) is an emerging disease that can lead to serious opportunistic infections, which has a history of 20 years since it was first reported in 2004. It’s a hard-detected AOID caused by AIGA. In recent years, there has been an increasing … Read more
2025: Onward and Upward!
J Clin Immunol. 2025 May 8;45(1):91. doi: 10.1007/s10875-025-01879-x. NO ABSTRACT PMID:40338378 | DOI:10.1007/s10875-025-01879-x
Quality of Life in Japanese Patients with Primary Immunodeficiency Disease is Disrupted throughout the Year
J Clin Immunol. 2025 May 7;45(1):90. doi: 10.1007/s10875-025-01869-z. ABSTRACT Patients with primary immunodeficiency disease (PID) have an increased susceptibility to infection and may experience negative impacts on health-related quality of life (HR-QOL) and activities of daily living. This prospective observational study of patients aged ≥ 12 years with PID assessed HR-QOL, work impairment, and disease-related … Read more