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IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay–Wells syndrome-like features. We showed that both variants were loss-of-function. Non-canonical NF-κB activation was profoundly diminished in stromal and immune cells while the canonical pathway was unexpectedly partially impaired. Reintroducing wt CHUK restored non-canonical NF-κB activation. The patient had neutralizing autoantibodies against type I IFN, akin to non-canonical NF-κB pathway deficiencies. Thus, this is the first case of biallelic CHUK mutations disrupting IKKα kinase function, broadening non-canonical NF-κB defect understanding, and suggesting IKKα’s role in canonical NF-κB target gene expression in humans.

L’inégalité de longueur des membres inférieurs (ILMI) dans les suites des arthroplasties de hanche après fracture du fémur proximal (AFFP), est peu étudiée. L’objectif de ce travail est de répondre aux questions suivantes : quelle fréquence et quelles valeurs moyennes d’ILMI après AFFP ? Quelles conséquences cliniques (tolérance) de l’ILMI après AFFP ? Peut-on identifier des facteurs de risques d’ILMI après AFFP ? Existe-t-il une différence significative en termes d’ILMI après AFFP sur fractures intra- versus extra-capsulaires ?