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This report presents a case where a patient with Omenn syndrome, complicated by cytomegalovirus infection, was successfully treated using reduced intensity conditioning allogeneic HSCT from a sibling donor.

This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.

This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.

This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.

In this study, Ser516 phosphorylation of Artemis was found predominantly in the outer root sheath keratinocytes of hair follicles, suggesting a role in regulating human epidermal appendages.