Open AccessProgressive choreodystonia in X‐linked hyper‐IgM immunodeficiency: a rare but recurrent presentation
Author(s) -
Škorvánek Matej,
Jech Robert,
Winkelmann Juliane,
Zech Michael
Publication year - 2022
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51538
Subject(s) - medicine , chronic mucocutaneous candidiasis , immunodeficiency , primary immunodeficiency , ataxia telangiectasia , etiology , immunology , context (archaeology) , immune system , disease , genetics , pathology , biology , dna , paleontology , dna damage
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.