ArticleNeurosciences (Riyadh, Saudi Arabia)2023
Inherited CD59 deficiency, where neurology and genetics intertwine.
Article in Neurosciences (Riyadh, Saudi Arabia), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Recurrent Acute Flaccid Paralysis in a Child Linked to CD59 Variant.Indian pediatrics · 2026Article
- Complement diagnostics and therapeutics for the pediatric population: early successes and opportunities for further advancement.Frontiers in pharmacology · 2026Review
- Congenital CD59 Deficiency-A Novel Cause of Relapsing-Remitting Polyneuropathy.Annals of Indian Academy of Neurology · 2025Article
- Complement Dysregulation in Infancy: A Case of CD59 Deficiency With Neurological Sequelae.Cureus · 2025Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo describe the clinical phenotype of eight children diagnosed with CD59 deficiency and their ultimate neurological outcome.
methodsThe data of our cases were extensively reviewed both clinical and ancillary tests; investigations included: neuroimaging, neurophysiological studies, and laboratory tests.
resultsAll patients presented during early infancy with Guillain-Barre syndrome later they suffered repeated relapses leading to the diagnosis of chronic axonal neuropathy. Recurrent stroke and acute necrotizing encephalopathy were described, 2 patients in each group. One girl developed acute disseminated encephalomyelitis while one boy developed acute transverse myelitis. Overt hemolytic anemia requiring blood transfusion reported in six patients.
conclusionInherited CD59 deficiency is an autosomal recessive disorder which can have devastating neurological consequences. First line immunotherapy including intravenous immunoglobin, corticosteroids, and plasma exchange may have transient beneficial effect. Reports of targeted therapy with eculizumab might be lifesaving. Genetic counseling is crucial.
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