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Neuromuscular Symptoms of ORAI1-Related Immunodeficiency

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Journal of Child Neurology

Published online on

Abstract

Journal of Child Neurology, Ahead of Print.
Combined immunodeficiency (CID) due toORAI1deficiency is an ultrarare autosomal recessive disorder characterized by the coexistence of recurrent infections, ectodermal dysplasia, autoimmunity, and myopathy. Untreated patients die in early childhood due ...