J Clin Immunol. 2025 Oct 9;45(1):142. doi: 10.1007/s10875-025-01944-5. NO ABSTRACT PMID:41065887 | DOI:10.1007/s10875-025-01944-5
J Clin Immunol. 2025 Oct 1;45(1):141. doi: 10.1007/s10875-025-01929-4. ABSTRACT INTRODUCTION: Specific determinants of target-organ damage in autoimmune diseases are complex and multifactorial, several genetic and environmental factors are recognized but mostly remain unknown. Immunotherapy with “check-point inhibitors” (CPI) is complicated by immune related adverse events (IRAE), occurring in a large fraction of patients, with organ-specific … Read more
J Clin Immunol. 2025 Sep 30;45(1):137. doi: 10.1007/s10875-025-01937-4. ABSTRACT OBJECTIVE: Germline heterozygous gain-of-function (GOF) mutations in STAT1 impair IL-17-mediated immunity, resulting in carriers’ susceptibility to chronic mucocutaneous candidiasis (CMC). JAK inhibitors have shown therapeutic effectiveness in patients with STAT1-GOF mutations. METHODS: The mutation was detected using whole-exome sequencing (WES) and confirmed by Sanger sequencing. The … Read more
J Clin Immunol. 2025 Sep 30;45(1):132. doi: 10.1007/s10875-025-01928-5. NO ABSTRACT PMID:41026272 | DOI:10.1007/s10875-025-01928-5
J Clin Immunol. 2025 Sep 30;45(1):131. doi: 10.1007/s10875-025-01926-7. ABSTRACT BACKGROUND: The CYBB gene encodes the gp91-phox protein, a critical component of the NADPH oxidase complex involved in pathogen clearance. Mutations in CYBB are associated with chronic granulomatous disease (CGD), leading to recurrent bacterial infections. OBJECTIVE: To understand the genetic causes of Chinese CGD patients. METHODS: … Read more
J Clin Immunol. 2025 Sep 30;45(1):138. doi: 10.1007/s10875-025-01932-9. ABSTRACT VEXAS syndrome is an adult-onset autoinflammatory disorder caused by somatic UBA1 variants, but there are no standardized criteria for genetic testing or diagnostics. This study compared Sanger sequencing and next-generation sequencing (NGS) for detecting UBA1 variants in patients with suspected VEXAS, assessed the ability of Sanger … Read more
J Clin Immunol. 2025 Sep 30;45(1):129. doi: 10.1007/s10875-025-01920-z. ABSTRACT PURPOSE: Enteropathy is a non-infectious complication in Common Variable Immune Deficiency (CVID) associated with increased morbidity and mortality. We characterized this group of CVID enteropathy (CVID-E) patients and investigated the effectiveness of immunosuppressive treatments on its clinical course. METHOD: We identified patients with CVID-E in two … Read more
J Clin Immunol. 2025 Sep 30;45(1):139. doi: 10.1007/s10875-025-01938-3. ABSTRACT Phosphatidylinositol 3-kinases (PI3Ks) are heterodimeric lipid kinases that are involved in a diverse array of cellular functions such as growth, metabolism, and migration. Mutations in PIK3CD, which encodes an immune-specific catalytic subunit of PI3K, cause both dominant (activating) and recessive (loss of function) immune deficiencies in … Read more
J Clin Immunol. 2025 Sep 30;45(1):140. doi: 10.1007/s10875-025-01933-8. ABSTRACT PURPOSE: Type I interferonopathy encompasses disorders marked by systemic inflammation and neurological involvement, arising from genetic mutations that result in the upregulation of type I IFN signaling through various mechanisms. Currently, therapeutic options are limited, and no standard therapy exists. This study aims to develop a … Read more
J Clin Immunol. 2025 Sep 30;45(1):136. doi: 10.1007/s10875-025-01935-6. ABSTRACT Inborn errors of immunity (IEI) are a heterogeneous group of genetic disorders that disrupt the normal development and function of the immune system. These diseases not only increase susceptibility to infections but also significantly elevate the risk of developing malignancies and autoimmune diseases. The interplay between … Read more
