Evaluating Pediatric Reference Ranges for Extended Immunophenotyping from a Finnish Cohort against Published References

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

Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations

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

S100A4 Induces Neutrophilic Inflammation in Chronic Rhinosinusitis with Nasal Polyps via TLR4 Pathway

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

Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia – A Retrospective Multicenter Study

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

A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency

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

A Multicentric Clinical Study to Evaluate Pharmacokinetics, Efficacy, and Safety of Immune Globulin Subcutaneous 20% Weekly/Biweekly Dosing in Treatment-Experienced Patients and Loading/Weekly Maintenance Dosing in Treatment-Naïve Patients with Primary Immunodeficiency

J Clin Immunol. 2025 Nov 12;45(1):158. doi: 10.1007/s10875-025-01952-5. ABSTRACT Intravenous immunoglobulin (IVIG) therapy is a well-documented and effective treatment for primary immunodeficiencies (PI). Subcutaneous immunoglobulins (SCIG) have emerged as an effective alternative for some patients that offers additional flexibility.Currently, caprylate/chromatography purified IGSC (human) 20% is approved to treat PI in North America and many countries … Read more

Impact of Immune Cells on IgA Vasculitis via Metabolites and Inflammatory Cytokines

J Clin Immunol. 2025 Nov 10;45(1):157. doi: 10.1007/s10875-025-01946-3. ABSTRACT BACKGROUND: IgA vasculitis (IgAV) is an autoimmune disorder characterized by inflammation of the small blood vessels. The pathogenesis of IgAV is believed to involve a complex interplay between immune cells, metabolites, and inflammatory cytokines (ICs). METHODS: We performed two-sample Mendelian randomization (MR) analysis to examine the … Read more

Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series

J Clin Immunol. 2025 Nov 10;45(1):156. doi: 10.1007/s10875-025-01956-1. ABSTRACT Combined immunodeficiency due to CARMIL2 mutations is a rare autosomal recessive primary immunodeficiency characterized by impaired T-cell activation and function, leading to diverse clinical manifestations. Fewer than 50 cases have been reported worldwide. We describe the clinical and genetic features of five patients from Palestine with … Read more

Fungal Infections – a Stealthy Enemy in Patients with Chronic Granulomatous Disease: a 28-years’ Experience from North India

J Clin Immunol. 2025 Nov 7;45(1):153. doi: 10.1007/s10875-025-01940-9. ABSTRACT Fungal infections contribute to a significant disease burden in patients with chronic granulomatous disease (CGD). While the presentation may differ depending on genotype and environmental exposure to fungus, associated mortality rates are universally high. This is a retrospective study wherein medical records of patients diagnosed with … Read more

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