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Article

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood

15 Aug 2016

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 27531075
DOI: 10.1016/j.jaci.2016.06.050

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Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthoodPMID 27531075Read ↗

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiencySemantic proximity Read ↗

Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.Semantic proximity Read ↗

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