Journal of Clinical Immunology

J Clin Immunol. 2025 Nov 25;45(1):166. doi: 10.1007/s10875-025-01945-4. ABSTRACT BACKGROUND: Newborn screening (NBS) by quantification of T-cell receptor excision circles (TREC) identifies a considerable number of infants with T-cell lymphopenia (TCL) other than severe combined immunodeficiency (SCID). While some of these children have well-defined inborn errors of immunity (IEI), many lack a clear genetic diagnosis, … Read more

J Clin Immunol. 2025 Nov 26. doi: 10.1007/s10875-025-01961-4. Online ahead of print. ABSTRACT BACKGROUND AND OBJECTIVES: Ankylosing spondylitis (AS) is a chronic immune-mediated inflammatory disease primarily affecting the axial skeleton. Despite significant advances, its pathogenic mechanisms remain unclear, posing challenges to early diagnosis and effective treatment. This study aims to elucidate the pathogenic pathways of … Read more

J Clin Immunol. 2025 Nov 23. doi: 10.1007/s10875-025-01947-2. Online ahead of print. ABSTRACT INTRODUCTION: Inborn errors of immunity (IEIs) constitute a diverse group of more than 500 disorders resulting from pathogenic variants in over 500 causative genes, with most being monogenic diseases. The use of exome sequencing based on next-generation sequencing technologies has significantly advanced … Read more

J Clin Immunol. 2025 Nov 18;45(1):164. doi: 10.1007/s10875-025-01948-1. NO ABSTRACT PMID:41249721 | DOI:10.1007/s10875-025-01948-1

J Clin Immunol. 2025 Nov 18;45(1):163. doi: 10.1007/s10875-025-01964-1. ABSTRACT PURPOSE: This study aimed to investigate the spectrum of bacterial infections in children with inborn error of immunity (IEIs). METHODS: Pediatric patients with IEIs and positive for bacteria considered to be pathogenic were included in this retrospective study. RESULTS: In this study, 1811 medical records of … Read more

J Clin Immunol. 2025 Nov 18;45(1):162. doi: 10.1007/s10875-025-01959-y. ABSTRACT Flow cytometric immunophenotyping of lymphocytes and dendritic cells, and functional lymphocyte mitogen response tests are used in the diagnostics of inborn errors of immunity (IEI), especially in pediatrics. These routinely used tests lack sufficient age-matched reference values in children. We established reference values for lymphocyte and … Read more

J Clin Immunol. 2025 Nov 18;45(1):165. doi: 10.1007/s10875-025-01958-z. ABSTRACT Suppressor of cytokine signaling 1 (SOCS1) haploinsufficiency is a recently described inborn error of immunity characterized by autoimmunity, inflammation, lymphoproliferation, and increased infection susceptibility. SOCS1, a negative regulator of cytokine signaling via the JAK/STAT pathway, explains the condition’s broad phenotypic variability. Single nucleotide polymorphisms in SOCS1 … Read more

J Clin Immunol. 2025 Nov 15;45(1):160. doi: 10.1007/s10875-025-01953-4. ABSTRACT BACKGROUND: Treating neutrophilic inflammation in chronic rhinosinusitis with nasal polyps (CRSwNP) remains a challenge. Managing excessive infiltration and activation of neutrophils in tissues is important for improving CRSwNP outcomes. S100A4, a calcium-binding protein, regulates cell migration, chemotaxis and tissue fibrosis. In this study, we sought to … Read more

J Clin Immunol. 2025 Nov 15;45(1):161. doi: 10.1007/s10875-025-01962-3. ABSTRACT X-linked agammaglobulinemia (XLA) is caused by loss-of-function variants in Bruton’s tyrosine kinase, leading to absence of circulating B lymphocytes and inability to produce antibodies. Despite the fear that patients with XLA would be at high risk for severe infection when the novel virus SARS-CoV-2 emerged in … Read more

J Clin Immunol. 2025 Nov 12;45(1):159. doi: 10.1007/s10875-025-01960-5. ABSTRACT Haploinsufficiency of cytotoxic T-lymphocyte associated protein 4 (CTLA4), a known cause of inborn errors of immunity, can lead to autoimmunity, inflammation, neoplasia and infections. A previously undescribed CTLA4 variant was identified in a patient who presented with life-threatening cutaneous infection caused by Pseudomonas aeruginosa, severe VZV … Read more