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

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

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

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?

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

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

Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era

J Clin Immunol. 2024 Dec 23;45(1):58. doi: 10.1007/s10875-024-01835-1. ABSTRACT BACKGROUND: Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity). METHODS: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from … Read more

Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India

J Clin Immunol. 2024 Dec 17;45(1):56. doi: 10.1007/s10875-024-01848-w. ABSTRACT PURPOSE: Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder characterized by distinctive features including microthrombocytopenia, eczema and recurrent infections. In the present study we report clinical, immunological and molecular spectrum of 41 WAS patients diagnosed over last five years. METHODS: Clinical and family history was collected … Read more

Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care

J Clin Immunol. 2024 Dec 17;45(1):57. doi: 10.1007/s10875-024-01838-y. ABSTRACT PURPOSE: Significant improvements in the prognosis for young patients with Primary Immunodeficiency Diseases (PID) and Autoinflammatory Disorders (AID), which together make up the majority of Inborn Errors of Immunity (IEI), have resulted in the need for optimisation of transition and transfer of care to adult services. … Read more

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