Journal of Clinical Immunology

ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects

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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

Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells

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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

Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI)

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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

Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency

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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

Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity

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J Clin Immunol. 2025 Jan 2;45(1):61. doi: 10.1007/s10875-024-01855-x. ABSTRACT PURPOSE: Patients with inborn errors of immunity (IEI) have lifelong health complications including severe infections and physical impairments. Previous studies show that a patient’s perception of their health is an important predictor of health outcomes. The purpose of this study was to understand factors related to … Read more

Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?

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J Clin Immunol. 2025 Jan 3;45(1):63. doi: 10.1007/s10875-024-01856-w. ABSTRACT Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and … Read more

Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series

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J Clin Immunol. 2024 Dec 27;45(1):59. doi: 10.1007/s10875-024-01853-z. ABSTRACT Inborn errors of immunity (IEI) are a heterogenous group of rare monogenic disorders that affect innate or adaptive immunity, resulting in susceptibility to life-threatening infections and autoimmunity. Allogeneic hematopoietic cell transplantation (HCT) is a valuable curative option for children with IEI. We conducted a retrospective single-center … Read more

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