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Here, we describe compound heterozygous variants in the kinase domain of IKK\u03b1 in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay\u2013Wells syndrome-like features. We showed that both variants were loss-of-function. Non-canonical NF-\u03baB activation was profoundly diminished in stromal and immune cells while the canonical pathway was unexpectedly partially impaired. Reintroducing wt CHUK restored non-canonical NF-\u03baB activation. The patient had neutralizing autoantibodies against type I IFN, akin to non-canonical NF-\u03baB pathway deficiencies. Thus, this is the first case of biallelic CHUK mutations disrupting IKK\u03b1 kinase function, broadening non-canonical NF-\u03baB defect understanding, and suggesting IKK\u03b1\u2019s role in canonical NF-\u03baB target gene expression in humans.<\/jats:p>","DOI":"10.1084\/jem.20240843","type":"journal-article","created":{"date-parts":[[2024,12,5]],"date-time":"2024-12-05T02:20:48Z","timestamp":1733365248000},"update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Mutations disrupting the kinase domain of IKK\u03b1 lead to immunodeficiency and immune dysregulation in humans"],"prefix":"10.1084","volume":"222","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3323-0235","authenticated-orcid":true,"given":"Quentin","family":"Riller","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05f82e368","id-type":"ROR","asserted-by":"publisher"}],"name":"INSERM UMR 1163, Imagine Institute, University Paris 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