J Clin Immunol. 2025 Oct 16;45(1):144. doi: 10.1007/s10875-025-01936-5. ABSTRACT BACKGROUND: Primary immunodeficiency disease (PID)/Inborn Errors of Immunity (IEI) with T-cell dysfunction is well-known for susceptibility to opportunistic/viral infections. Epstein-Barr virus-positive smooth muscle tumor (EBV-SMT) is a rare entity primarily seen in the setting of immunodeficiency, such as transplantation, HIV/AIDS, and IEI. AIM: This study aimed … Read more

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