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Article

Tracing a Rare Genetic Disease: Familial Congenital CD59 Deficiency and Carrier Cases Identified Through Village Screening.

Journal of pediatric hematology/oncology - 1 Apr 2025

Sefika Ilknur Kökcü Karadag, Medine Karadağ Alpaslan, Hüseyin Karadağ, Eda Turgut Uğurtay, Cansu Can, Alisan Yildiran

Abstract excerpt

BACKGROUND: Congenital CD59 deficiency is a rare genetic disorder marked by chronic hemolysis, recurrent cerebrovascular events, and chronic inflammatory demyelinating polyneuropathy (CIDP). In a specific clinic, 3 siblings from a consanguineously married family were diagnosed with this condition, suggesting a genetic predisposition in their village where endogamous marriages are common. MATERIALS AND METHODS:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40126046
DOI: 10.1097/MPH.0000000000003008

Genes

CD59

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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