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Researchers find genetic variants linked to uncommon, deadly illness

Researchers find genetic variants linked to uncommon, deadly illness
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Masatoshi takagiHirokazu kaneganeClinical immunology

Genetic variations that cause rare, deadly illness: Research

The study shows that certain genetic variations can cause a deadly condition known as “RAD50 deficiency/Nijmegen breakage syndrome-like disorder.” | Health

India generalHirokazu kaneganeMasatoshi takagiResearch shutterstockHindustan timesWhatsapp channelsGenetic variationsRare illnesDeadly illRad50 deficiencyNijmegen breakage syndrome like disorderGenetic variations that cause rare and deadly illness

Researchers identify the variants responsible

In a rare case of RAD50 deficiency/Nijmegen breakage syndrome-like disorder, researchers from Tokyo Medical and Dental University（TMDU） have identified disease-associated variants in the RAD50 gene. Variants in RAD50 seem to be linked to bone marrow failure and immunodeficiency in this disorder, suggesting that it may be considered an inborn error of immunity. The research team hopes that this new disease concept will lead to better diagnosis and treatment of the disorder.

Hirokazu kaneganeMasatoshi takagiTokyo medicalDental universityClinical immunologyMarrow failureImmunodeficiency associated

Researchers identify genetic variations that cause rare, deadly illness

Researchers identify genetic variations that cause rare, deadly illness
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Hirokazu kaneganeMasatoshi takagi

Researchers identify the variants responsible for a rare and serious disorder

Researchers identify the variants responsible for a rare and serious disorder
medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.

Hirokazu kaneganeMasatoshi takagiClinical immunologyBone marrow failureImmunodeficiency associated