Journal of Clinical Immunology

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

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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

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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

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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

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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

Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia

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J Clin Immunol. 2025 Nov 8;45(1):154. doi: 10.1007/s10875-025-01927-6. ABSTRACT PURPOSE: Patients with X-linked agammaglobulinemia (XLA) suffer from severe, recurrent infections potentially leading to life-threatening complications. Early diagnosis and timely treatment can prevent infections and secondary complications, emphasizing a role for newborn screening (NBS). NBS for XLA is based on quantification of kappa-deleting recombination excision circles … Read more

Consecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review

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J Clin Immunol. 2025 Nov 6;45(1):152. doi: 10.1007/s10875-025-01903-0. ABSTRACT BACKGROUND: Non-Aspergillus invasive fungal infections (NAFI) are increasingly reported in patients with Chronic Granulomatous Disease (CGD), but precise clinical descriptions remain scarce. OBJECTIVE AND METHODS: We conducted a retrospective analysis of NAFI cases among CGD patients in the French National Registry of Primary Immunodeficiencies (CEREDIH) and … Read more

Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure

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J Clin Immunol. 2025 Nov 5;45(1):150. doi: 10.1007/s10875-025-01951-6. ABSTRACT PURPOSE: Bone marrow failure (BMF) in idiopathic aplastic anemia (AA) and hypoplastic myelodysplastic neoplasms (MDS-h) results from the destruction of hematopoietic progenitors by autoreactive T cells; however, the molecular events driving the pathogenesis of these disorders remain unclear. We therefore applied whole-exome sequencing (WES) in AA … Read more

Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients

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J Clin Immunol. 2025 Oct 21;45(1):148. doi: 10.1007/s10875-025-01934-7. ABSTRACT BACKGROUND: Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked(IPEX) syndrome caused by FOXP3 mutations is rare. FOXP3 is a transcription factor required for the regulatory T cell (Treg) development/function. AIM: We aimed to characterize the clinical, immunologic, and genetic features of a single-center cohort of IPEX syndrome. PATIENTS … Read more

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