Publications by authors named "H Kuehn"
Background: Heterozygous immunoproteasome subunit beta-type 10 (PSMB10) mutations can cause severe combined immunodeficiency (SCID) and Omenn syndrome (OS). Hematopoietic stem cell transplantation in these patients is associated with severe complications and poor immune reconstitution, often resulting in death.
Objective: To perform immunological and molecular characterization of an infant with a PSMB10 heterozygous variant.
Article Synopsis
- PI4KA-related disorder is marked by a variety of neurological and gastrointestinal issues, including spasticity, developmental challenges, and recurrent infections, with specific attention given to the impact on B-cell function and immunodeficiency in some patients. * -
- The study involved analyzing 13 patients with PI4KA variants, revealing common traits such as B-cell deficiency and hypogammaglobulinemia, alongside significant changes in B-cell subsets and functioning due to metabolic disruptions. * -
- Findings indicate that mutations in PI4KA lead to disturbances in lipid production and metabolic pathways in B cells, fostering mitochondrial dysfunction and abnormal immune responses, suggesting a critical role of PI4KA in B-cell differentiation and health. *
Heterozygous germline variants in human encoding for IKAROS define an inborn error of immunity with immunodeficiency, immune dysregulation and risk of malignancy with a broad phenotypic spectrum. Growing evidence of underlying pathophysiological genotype-phenotype correlations helps to improve our understanding of IKAROS-associated diseases. We describe 6 patients from 4 kindreds with two novel variants leading to haploinsufficiency from 3 centers in Germany.
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- Autoimmune polyendocrine syndrome type 1 (APS-1) is a severe genetic disorder resulting from AIRE deficiency, leading to self-reactive T cells causing autoimmune damage in various organs.
- The study investigated the role of interferon-γ in APS-1 by analyzing patient samples and conducting experiments with mice, finding that high levels of interferon-γ correlate with disease activity.
- Treatment with the JAK inhibitor ruxolitinib significantly reduced interferon-γ levels and improved symptoms in APS-1 patients, suggesting that targeting this pathway may be a viable therapeutic approach.
Common variable immune deficiency (CVID) is a heterogenous group of disorders characterized by varying degrees of hypogammaglobulinemia, recurrent infections, and autoimmunity. Currently, pathogenic variants are identified in approximately 20-30% of CVID cases. Here we report a 3-generation family with autosomal dominant Common Variable Immunodeficiency (CVID) diagnosed in 9 affected individuals.
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