Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu kazuistiky, práce podpořená grantem, časopisecké články
PubMed
35267244
PubMed Central
PMC8994980
DOI
10.1002/acn3.51538
Knihovny.cz E-zdroje
- MeSH
- dítě MeSH
- dospělí MeSH
- imunodeficience s hyper-IgM, typ 1 * genetika patologie MeSH
- lidé MeSH
- ligand CD40 genetika MeSH
- mutace MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- ligand CD40 MeSH
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.
Department of Neurology P J Safarik University Kosice Slovak Republic
Department of Neurology University Hospital of L Pasteur Kosice Slovak Republic
Institute of Human Genetics School of Medicine Technical University of Munich Munich Germany
Institute of Neurogenomics Helmholtz Zentrum München Munich Germany
Lehrstuhl für Neurogenetik Technische Universität München Munich Germany
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