Immunological aspects of immunodeficiency diseases part 22

Immune 3


Signalling through CD40, which belongs to the TNF-receptor superfamily, depends on the activation of the inhibitor of κ kinase (IKK) complex, resulting in the induction of NFκB. Hypomorphic mutations  of the gamma subunit of the IKK complex, which is called NEMO (NFκB essential modulator), impairs NFκB  activation. Patients with mutations in NEMO develop a complex immunodeficiency, which includes features of the HIGM syndrome.

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