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We encountered a male patient who presented immunodeficiency of unknown etiology since childhood. A medication\u2010refractory, progressive choreodystonic movement disorder emerged at the age of 42\u2009years and prompted an exome\u2010wide molecular testing approach. This revealed a pathogenic hemizygous variant in <jats:italic>CD40LG<\/jats:italic>, the gene implicated in X\u2010linked hyper\u2010IgM syndrome. Only two prior reports have specifically suggested a causal relationship between <jats:italic>CD40LG<\/jats:italic> mutations and involuntary hyperkinetic movements. Our findings thus confirm the existence of a particular <jats:italic>CD40LG<\/jats:italic>\u2010related condition, combining features of compromised immunity with neurodegenerative movement abnormalities. Establishing the diagnosis is crucial because of potential life\u2010threatening immunological complications.<\/jats:p>","DOI":"10.1002\/acn3.51538","type":"journal-article","created":{"date-parts":[[2022,3,10]],"date-time":"2022-03-10T13:34:08Z","timestamp":1646919248000},"page":"577-581","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Progressive choreodystonia in X\u2010linked <scp>hyper\u2010IgM<\/scp> immunodeficiency: a rare but recurrent presentation"],"prefix":"10.1002","volume":"9","author":[{"given":"Matej","family":"\u0160korv\u00e1nek","sequence":"first","affiliation":[{"name":"Department of Neurology P.J. Safarik University Kosice Slovak Republic"},{"name":"Department of Neurology University Hospital of L. 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