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Article

CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a-) variant.

Human genetics - 1 May 2023

Kurolap Alina, Hagin David, Freund Tal, Fishman Sigal, Zunz Henig Noa, Brazowski Eli, Yeshaya Josepha, Naiman Tova, Pras Elon, Ablin Jacob N, Baris Feldman Hagit

Abstract excerpt

The complement system regulator CD55 was initially found to carry the Cromer blood group system antigens, and its complete loss of function was subsequently revealed to cause a severe monogenic gastrointestinal syndrome characterized by protein-losing enteropathy and susceptibility to venous thrombosis. Here we present homozygosity to the CD55 c.596C>T; p.Ser199Leu variant, which was previously described as the...

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PMID: 35314883
DOI: 10.1007/s00439-021-02428-3
PMCID: PMC8936040

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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