January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
9 citations
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March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
6 citations
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November 2021 in “Frontiers in immunology” This study suggests that STAT3 signaling in keratinocytes is crucial for maintaining skin homeostasis by regulating hair follicle-specific keratin genes, potentially impacting dermatitis development through microbe-triggered inflammatory responses.
This study reported that dupilumab successfully induced remission of chronic, disseminated eczema herpeticum in a six-year-old girl with DOCK8-deficiency hyper-IgE syndrome, achieving complete resolution of herpetic lesions and significant skin, hair, and nail improvement within three months.
97 citations
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March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.