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

J Clin Immunol. 2025 Jul 29;45(1):118. doi: 10.1007/s10875-025-01913-y. ABSTRACT Natural Killer (NK) cells naturally recognize and eliminate leukemic cells. However, the molecular interactions that govern these responses are diverse due to the large number of activating and inhibitory NK receptors that modulate NK functions and the diversity of corresponding ligands that are differentially expressed in … Read more

J Clin Immunol. 2025 Jul 28;45(1):117. doi: 10.1007/s10875-025-01918-7. NO ABSTRACT PMID:40719900 | DOI:10.1007/s10875-025-01918-7

J Clin Immunol. 2025 Jul 25;45(1):115. doi: 10.1007/s10875-025-01915-w. ABSTRACT BACKGROUND: The assessment of polysaccharide responsiveness via vaccination is pivotal in the evaluation of patients for primary immunodeficiency. However, the applicability of current guidelines provided by the American Academy of Allergy, Asthma & Immunology (AAAAI) has been subject to scrutiny. METHODS: We conducted a prospective study … Read more

J Clin Immunol. 2025 Jul 25;45(1):116. doi: 10.1007/s10875-025-01908-9. ABSTRACT BACKGROUND: The CD247 chain of the T-cell receptor (TCR) is essential for normal T cell development and function. Reported CD247-deficient patients showed severe immunodeficiency despite the presence of two populations of peripheral T cells, most with low TCR levels carrying the germline variant and a few … Read more

J Clin Immunol. 2025 Jul 24;45(1):114. doi: 10.1007/s10875-025-01914-x. ABSTRACT PURPOSE: Eosinophilic Granulomatosis with Polyangiitis (EGPA) is a rare vasculitis characterized by increased eosinophils in human tissues and peripheral blood. In this case, we present a 53-year-old female patient with EGPA. By this case and literature review, we want to explain the early manifestations, diagnosis, and … Read more