From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature

From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature

Abstract Background Severe combined immunodeficiencies (SCIDs) are hereditary disorders characterized by impaired T and B cell function, resulting in significant immune system dysfunction. Recombination-activating gene (RAG) mutations account for a substantial proportion of SCID cases. Here, we pres...

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Main Authors: Nima Taghizadeh Mortezaei, Soha Mohammadi, Hassan Abolhassani, Sima Shokri, Mohammad Nabavi, Morteza Fallahpour, Mohammad Hassan Bemanian
格式: 文件
语言:English
出版: BMC 2024-02-01
丛编:BMC Pediatrics
主题:
Inborn errors of immunity
Primary immunodeficiency
Recombination activating gene
Severe combined immunodeficiency
VUS classification
Likely pathogenic variant
在线阅读:https://doi.org/10.1186/s12887-024-04597-2

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https://doi.org/10.1186/s12887-024-04597-2

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