Influenza A virus (IAV) is an important zoonotic pathogen responsible for substantial respiratory morbidity and mortality. Elucidating the mechanisms by which IAV evades host innate immunity is cri...

Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but...

A groundbreaking study recently published in Genes & Diseases has shed new light on the clinical complexities linked to loss-of-function mutations in the IKBKG gene, also known as NEMO. This gene encodes a crucial regulatory protein within the NF-κB signaling pathway, a key cellular mechanism responsible for orchestrating immune responses, inflammation, and cell survival. Intriguingly, mutations impairing this gene’s function manifest in a spectrum of rare, often devastating disorders such as Incontinentia Pigmenti (IP), Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID), isolated Immunodeficiency (ID), and NEMO Deleted Exon 5 Autoinflammatory Syndrome (NDAS).