BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency

Salem Al-Tamemi,Zaid Alhinai,Najwa Al-Rahbi, Raghad Al-Abdawani, Laila Al-Yazidi,Jalila Al-Shekaili,Mahmood Al-Kindi,Almundher Al-Maawali

Clinical Immunology（2022）

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摘要

•Severe invasive infections may suggest severe combined immunodeficiency (SCID) in early infancy.•Lymphopenia is not always present in SCID.•A lymphocyte proliferation assay is essential in the diagnosis of SCID.•BCL10 gene defects can cause an atypical form of SCID.

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关键词

Severe combined immunodeficiency,Hypogammaglobulinemia,BCL10,Adenovirus,Oman

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