A novel mutation in FOXN1 resulting in SCID: a case report and literature review.

Janet Chou,Michel J Massaad,Rima Hanna Wakim,Wayne Bainter,Ghassan Dbaibo,Raif S Geha

Clinical Immunology（2014）

引用 31|浏览7

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摘要

•FOXN1mutations classically cause T cell lymphopenia, but may also permit non-maternal T cells.•Thymus transplantation is curative for FoxN1 deficiency.

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关键词

SCID,FOXN1,HSCT,WES,SNP

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