4 Result(s)
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Article
Peter Ciznar
English
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Article
Open AccessAutoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition t...
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Article
Open AccessSimple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
Patients with ataxia-telangiectasia (A-T) suffer from progressive cerebellar ataxia, immunodeficiency, respiratory failure, and cancer susceptibility. From a clinical point of view, A-T patients with IgA defic...
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Open AccessExpanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
Human nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few cases have been reported to date. However, the recent introdu...
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Open AccessPeriodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey
To analyze the prevalence of diagnosed and suspected autoinflammatory diseases in Eastern and Central European (ECE) countries, with a particular interest on the diagnostic facilities in these countries.
