J Clin Immunol. 2025 Feb 10;45(1):73. doi: 10.1007/s10875-025-01867-1. ABSTRACT Signal transducer and activator of transcription 3 (STAT3) plays a key role in leukocytic and non-leukocytic cells. Germ line mutations in STAT3, which are mainly found in the SH2, DNA binding and transactivation domains, can be loss- or gain-of-function (LOF and GOF). STAT3 N-terminal domain (NTD) … Read more

J Clin Immunol. 2025 Feb 7;45(1):72. doi: 10.1007/s10875-025-01865-3. NO ABSTRACT PMID:39918595 | DOI:10.1007/s10875-025-01865-3

J Clin Immunol. 2025 Feb 4;45(1):71. doi: 10.1007/s10875-025-01861-7. NO ABSTRACT PMID:39903395 | DOI:10.1007/s10875-025-01861-7

J Clin Immunol. 2025 Feb 3;45(1):70. doi: 10.1007/s10875-025-01864-4. NO ABSTRACT PMID:39899156 | DOI:10.1007/s10875-025-01864-4

J Clin Immunol. 2025 Jan 29;45(1):69. doi: 10.1007/s10875-025-01859-1. NO ABSTRACT PMID:39878870 | DOI:10.1007/s10875-025-01859-1

J Clin Immunol. 2025 Jan 27;45(1):68. doi: 10.1007/s10875-025-01860-8. NO ABSTRACT PMID:39869247 | DOI:10.1007/s10875-025-01860-8

J Clin Immunol. 2025 Jan 24;45(1):67. doi: 10.1007/s10875-025-01857-3. ABSTRACT BACKGROUND: Ataxia telangiectasia mutated (ATM) kinase plays a critical role in DNA double-strand break (DSB) repair. Ataxia telangiectasia (A-T) patients exhibit abnormalities in immunoglobulin isotype expression and class switch recombination (CSR). This study investigates the role of residual ATM kinase expression and activity in the severity … Read more

J Clin Immunol. 2025 Jan 15;45(1):66. doi: 10.1007/s10875-024-01849-9. ABSTRACT Reduced function or hypomorphic variants in recombination-activating genes (RAG) 1 or 2 result in a broad clinical phenotype including common variable immunodeficiency (CVID) and even adult-onset disease. Milder RAG variants are less characterized. Here we describe the longitudinal course of a milder combined RAG deficiency in … Read more

J Clin Immunol. 2025 Jan 6;45(1):64. doi: 10.1007/s10875-024-01854-y. ABSTRACT Allogeneic haematopoietic stem cell transplantation (alloHSCT) is safe and effective for adolescents and adults with inborn errors of immunity (IEI) with severe disease manifestations of their disease. The haematopoietic cell transplantation comorbidity index (HCT-CI) score predicts transplant survival in non-malignant diseases, including IEIs. We hypothesised that … Read more

J Clin Immunol. 2025 Jan 6;45(1):65. doi: 10.1007/s10875-024-01850-2. ABSTRACT Receptor Interacting Serine/Threonine Kinase 1 (RIPK1) is widely expressed and integral to inflammatory and cell death responses. Autosomal recessive RIPK1-deficiency, due to biallelic loss of function mutations in RIPK1, is a rare inborn error of immunity (IEI) resulting in uncontrolled necroptosis, apoptosis and inflammation. Although hematopoietic … Read more