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- Background: Encephalitis refers to inflammation of the brain parenchyma, which frequently leads to significant morbidity and mortality. A specific cause is identified in only half of the cases, with viral and autoimmune origins being the most common. In the remaining cases, the cause of encephalitis often remains unknown. Rare genetic conditions manifesting as encephalitis have been identified. Interferon regulatory factor 3 (IRF3) is a key transcription regulator involved in cellular responses, playing an essential role in innate immunity. However, IRF3 may also contribute to harmful immune responses, such as those seen in proinflammatory and autoimmune diseases. Several genetic variants or single nucleotide polymorphisms within IRF genes have been found at higher frequencies in patients with autoimmune diseases compared to healthy controls, suggesting a link to either increased risk or protection against these diseases.Methods: Our patient’s medical record was analyzed retrospectively, including his medical history, as well as results from immune laboratory tests and genetic analyses.Results: We present a 19-year-old male with autoimmune encephalopathy. Whole exome sequencing analysis revealed a novel heterozygous variant in the IRF3 gene (NM_001571.6), c.910G>A resulting in p.Gly304Arg.Conclusion: The presence of IRF3 mutations may lead to the development of autoimmune encephalopathy.Statement of Novelty: We have identified a novel variant in the IRF3 gene in a patient with autoimmune encephalopathy.
- Background: The prevalence of atopic disease, which consists of conditions such as atopic dermatitis, allergies, and asthma, has been on the rise in recent decades. In children, atopic dermatitis often acts as an initial manifestation of atopic disease and frequently precedes the development of food allergies, asthma, and allergic rhinitis. Mutations in the FLG gene, encoding the fillagrin precursor profillagrin, serve as a genetic risk factor for these diseases. Approximately 25%–50% of individuals with atopic dermatitis carry FLG mutations. It has been proposed that FLG mutations exhibit variations specific to different populations, indicating distinct patterns within each population.Severe allergic symptoms could indicate the presence of an underlying immunodeficiency or immune dysregulation and in patients with severe, early-onset, or simultaneous allergic conditions, these could be suggestive of an underlying Primary Atopic Disorder. Specifically, the allergic triad characterized by elevated IgE levels, eosinophilia, and eczema is a common feature in various inborn errors of immunity that could be mistakenly diagnosed as severe allergic conditions.Method: Our patient’s medical record was analyzed retrospectively, including her medical history, as well as results from immune laboratory tests and genetic analyses.Results: We present a 9-year-old female of mixed ethnicity with a history severe eczematous rash diagnosed with atopic dermatitis. Whole exome sequencing analysis revealed an initially novel heterozygous variant in the FLG gene (NM_002016: EXON3:c.C2218T: p.R740X).Conclusion: Healthcare providers caring for patients with atopic dermatitis and recurrent staphlococcus infections should be aware of the significant link between filaggrin gene mutations and the development of severe, persistent atopic dermatitis that begins in childhood, as well as its association with recurring staphlococcus infections. Additionally, they should keep in mind that certain inborn errors of immunity may predominantly manifest as severe and treatment-resistant atopic disorders.Statement of novelty: We have identified a rare variant in the FLG gene associated with severe atopic dermatitis and allergies.
- Background: The Nuclear Factor-kappa B (NF-kB) signaling pathway plays a critical role in regulating a wide range of cellular processes such as immune function, inflammation, and tumor regulation. There are two major pathways that play a role in NF-kB activation: the canonical NF-kB1 pathway and the non-canonical NF-kB2 pathway. Abnormalities in non-canonical NF-κB2 signaling are linked with significant impairments in the immune system, mainly B cell maturation, antibody production, as well as T helper and regulatory T cell function through its effect on germinal center regulation.Methods: Our patient’s medical record was analyzed retrospectively, including her medical history, results from immune laboratory tests, and genetic analyses.Results: We present a 16-year-old female with a history of chronic cough complicated with episodes of hemoptysis and diagnosed with bronchiectasis secondary to common variable immunodeficiency. Whole exome sequencing analysis revealed a novel heterozygous variant in the NFKB2 gene (NM_001077494.3), c.931C>T resulting in p.Arg311Cys.Conclusion: The presence of NFKB2 mutations can lead to the development of early-onset common variable immunodeficiency.Statement of Novelty: We have identified a novel variant in the NFKB2 gene associated with antibody deficiency.
