Disseminated Histoplasmosis in Very Early Diagnosed De Novo STAT3-HIES
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
Journal of Clinical Immunology
Stool Screening for Campylobacter Species in Hypogammaglobulinemic Patients Receiving Immunoglobulin Therapy
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
Epstein-Barr Virus-Associated Smooth Muscle Tumors in inborn Errors of Immunity: A single-center Case Series and Literature Overview
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
Correction to: Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis
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
The Targets of Immune Adverse Events in Cancer Immunotherapy by Combined Check-point Inhibitors Resemble those Seen in IPEX Patients
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
A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1
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
To the Editor, “CEBPE-Related Immunodeficiency Mimicking Acute Myeloid Leukemia: A Diagnostic Pitfall in Pediatric Autoinflammatory Disease”
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
Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy
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
Diagnostic and Monitoring Strategies for VEXAS Syndrome: Evaluating Sanger Sequencing, NGS, and the SWIM-Score
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
CVID Enteropathy Is Difficult To Treat and Shows a Heterogeneous Histopathology
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