Publications by authors named "M A Lee-Kirsch"

The cytosolic nucleic acid sensors RIG-I and cGAS induce type-I interferon (IFN)-mediated immune responses to RNA and DNA viruses, respectively. So far no connection between the two cytosolic pathways upstream of IKK-like kinase activation has been investigated. Here, we identify heterogeneous nuclear ribonucleoprotein M (hnRNPM) as a positive regulator of IRF3 phosphorylation and type-I IFN induction downstream of both cGAS and RIG-I.

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Article Synopsis
  • The study examines a female carrier of a genetic mutation in the IKBKG gene, which is linked to conditions like ectodermal dysplasia and ectodermal dysplasia and immunodeficiency in males and incontinentia pigmenti (IP) in females, leading to a condition called NEMO-NDAS, characterized by autoinflammatory symptoms.
  • Researchers used various techniques, including RT-PCR and nanopore sequencing, to analyze gene expression and protein levels in the patient and her mother compared to healthy controls.
  • Findings revealed that the patient exhibited autoinflammatory symptoms without immunodeficiency, attributed to a non-skewed X-inactivation, alternative splicing of the IKBKG gene, and increased levels of
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Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterized by loss of tolerance to nuclear antigens. The formation of autoantibodies and the deposition of immune complexes trigger inflammatory tissue damage that can affect any part of the body. In most cases, SLE is a complex disease involving multiple genetic and environmental factors.

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Article Synopsis
  • * A 3-year study, TRANSLATE NAMSE, analyzed data from 1,577 patients, revealing that 32% received molecular diagnoses involving 370 distinct causes, primarily uncommon.
  • * The research showed that combining next-generation sequencing with advanced phenotyping methods improved diagnostic efficiency and helped identify new genotype-phenotype associations, particularly in neurodevelopmental disorders.
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Patients with rare diseases commonly suffer from severe symptoms as well as chronic and sometimes life-threatening effects. Not only the rarity of the diseases but also the poor documentation of rare diseases often leads to an immense delay in diagnosis. One of the main problems here is the inadequate coding with common classifications such as the International Statistical Classification of Diseases and Related Health Problems.

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