To The Editor a Novel Mutation in MALT1 Deficiency
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
Journal of Clinical Immunology
Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights
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
Antisynthetase Syndrome during anti-TNF-alpha Therapy: Report of Two Cases
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
The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection
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
A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID
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
Loss of MALT1 Function in a Patient With Combined Immunodeficiency: a Novel Pathogenic Variant and Immunological Insights
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
β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies
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
Molecular Interactions Between NK Cells and Acute Leukemic Cells: KIR2DL5 Drastically Limits NK Cell Responses
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
Pilot Study of Anti-PD-1 Antibody Combined with L-DEP Regimens in the Treatment of Relapsed/Refractory EBV-HLH in Children
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
Reassessing Polysaccharide Responsiveness: Unveiling Limitations of Current Guidelines and Introducing the Polysaccharide Responsiveness Percentile Approach
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