Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation

. 2022 Apr ; 9 (4) : 577-581. [epub] 20220310

Jazyk angličtina Země Spojené státy americké Médium print-electronic

Typ dokumentu kazuistiky, práce podpořená grantem, časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/pmid35267244

An association between movement disorders and immune-system dysfunction has been described in the context of rare genetic diseases such as ataxia telangiectasia as well as infectious encephalopathies. We encountered a male patient who presented immunodeficiency of unknown etiology since childhood. A medication-refractory, progressive choreodystonic movement disorder emerged at the age of 42 years and prompted an exome-wide molecular testing approach. This revealed a pathogenic hemizygous variant in CD40LG, the gene implicated in X-linked hyper-IgM syndrome. Only two prior reports have specifically suggested a causal relationship between CD40LG mutations and involuntary hyperkinetic movements. Our findings thus confirm the existence of a particular CD40LG-related condition, combining features of compromised immunity with neurodegenerative movement abnormalities. Establishing the diagnosis is crucial because of potential life-threatening immunological complications.

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