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

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

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

J Clin Immunol. 2025 Nov 5;45(1):151. doi: 10.1007/s10875-025-01900-3. NO ABSTRACT PMID:41188583 | DOI:10.1007/s10875-025-01900-3

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

J Clin Immunol. 2025 Oct 21;45(1):149. doi: 10.1007/s10875-025-01943-6. ABSTRACT The cellular basis of COVID-19 severity in patients with deficiencies in type I IFN immunity remains unclear. In this study, we differentiated cardiomyocytes and macrophages from IFNAR1 competent (IFNAR1comp) and deficient (IFNAR1def) induced pluripotent stem cells (iPSCs), and analyzed virus replication and cytokine production after exposure … Read more

J Clin Immunol. 2025 Oct 20;45(1):147. doi: 10.1007/s10875-025-01950-7. ABSTRACT BACKGROUND: Inborn errors of immunity (IEI) affecting B-cell receptor signaling cause predominantly antibody deficiency (PAD) with varying degrees of severity. Recently, four heterozygous variants in SYK were reported to cause hypogammaglobulinemia, multiorgan inflammatory disease and diffuse large B-cell lymphoma. OBJECTIVE: We aimed to unravel the genetic … Read more

J Clin Immunol. 2025 Oct 20;45(1):146. doi: 10.1007/s10875-025-01942-7. NO ABSTRACT PMID:41114900 | DOI:10.1007/s10875-025-01942-7

J Clin Immunol. 2025 Oct 17;45(1):145. doi: 10.1007/s10875-025-01923-w. NO ABSTRACT PMID:41105277 | DOI:10.1007/s10875-025-01923-w

J Clin Immunol. 2025 Oct 16;45(1):143. doi: 10.1007/s10875-025-01949-0. ABSTRACT Hypogammaglobulinemia (HG) predisposes patients to gastrointestinal Campylobacter infections. This prospective study determined the prevalence of Campylobacter in stool samples from patients with immunoglobulin (Ig)-substituted HG at Bordeaux University Hospital. 73 patients (42 women, median age: 61) receiving Ig substitution therapy were enrolled from July 2022 to … Read more