Journal of Clinical Immunology

J Clin Immunol. 2025 Sep 25;45(1):128. doi: 10.1007/s10875-025-01910-1. ABSTRACT PURPOSE: Inborn Errors of Immunity (IEI) often lead to recurrent infections, immune dysregulation, and an increased risk of malignancies. Due to the heterogeneity in IEI presentations, personalized monitoring is essential for early detection of non-infectious complications. This study aims to document the characteristics and prevalence of … Read more

J Clin Immunol. 2025 Aug 26;45(1):127. doi: 10.1007/s10875-025-01897-9. ABSTRACT Common Variable Immunodeficiency (CVID) is a heterogeneous disorder characterized by impaired antibody production and recurrent infections. In this study we investigated the clinical and immunological features of CVID in Indian patients and develops a machine learning model for predicting disease severity. We retrospectively analyzed 150 patients … Read more

J Clin Immunol. 2025 Aug 25;45(1):125. doi: 10.1007/s10875-025-01904-z. ABSTRACT PURPOSE: Patients with (X-linked) agammaglobulinemia (XLA) suffer from severe, recurrent infections potentially leading to life-threatening complications such as sepsis, meningoencephalitis and chronic lung disease. Early diagnosis and timely treatment can prevent infections and secondary complications, emphasizing a role for early detection of XLA via newborn screening … Read more

J Clin Immunol. 2025 Aug 25;45(1):126. doi: 10.1007/s10875-025-01924-9. NO ABSTRACT PMID:40853399 | DOI:10.1007/s10875-025-01924-9

J Clin Immunol. 2025 Aug 23;45(1):124. doi: 10.1007/s10875-025-01912-z. ABSTRACT Hereditary angioedema with normal C1 inhibitor (HAE-nC1-INH) is a rare and genetically heterogeneous disorder with an incomplete molecular understanding. This study aimed to identify novel genetic variants associated with HAE-nC1-INH, characterize their clinical manifestations, and evaluate real-world treatment responses. Whole-exome sequencing of 27 HAE patients, including … Read more

J Clin Immunol. 2025 Aug 22;45(1):123. doi: 10.1007/s10875-025-01925-8. NO ABSTRACT PMID:40844679 | DOI:10.1007/s10875-025-01925-8

J Clin Immunol. 2025 Aug 11;45(1):122. doi: 10.1007/s10875-025-01899-7. ABSTRACT PURPOSE: The Ezrin-Radixin-Moesin (ERM) family member moesin (MSN) plays a crucial role in reversibly linking F-actin to the cell membrane. Patients carrying MSN gene mutations consistently exhibit immunodeficiencies. However, due to the scarce number of reported cases worldwide, the mechanism by which MSN mutation leads to … Read more

J Clin Immunol. 2025 Aug 2;45(1):121. doi: 10.1007/s10875-025-01917-8. ABSTRACT The interleukin-2 receptor γ (IL-2Rγ, or γc) is a crucial component of several cytokine receptor complexes. Deficiencies in γc lead to X-linked severe combined immunodeficiency (X-SCID), characterized by recurrent infections due to the absence or dysfunction of T and NK cells, and nonfunctional B cells. Missense … Read more

J Clin Immunol. 2025 Aug 1;45(1):119. doi: 10.1007/s10875-025-01921-y. ABSTRACT BACKGROUND AND OBJECTIVES: Germline pathogenic variants in the mucosa-associated lymphoid tissue lymphoma translocation gene 1 (MALT1) encodes a caspase-like protease that plays a crucial role in the caspase recruitment domain (CARD)-B-cell lymphoma 10 (BCL10)-MALT1 (CBM) complex. This complex mediates the activation of nuclear factor-kB (NF-kB) pathway … Read more

J Clin Immunol. 2025 Aug 1;45(1):120. doi: 10.1007/s10875-025-01906-x. ABSTRACT PURPOSE: Baraitser-Winter syndrome type 1 (BRWS1) is a rare disorder characterized by intellectual disability, short stature, facial dysmorphism, cortical malformations, macrothrombocytopenia, and recurrent infections. BRWS1 is caused by loss-of-function variants in ACTB, leading to β-actin deficiency. Given the essential role of the actin cytoskeleton in T-cell … Read more