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A human inborn error connects the α's

NATURE IMMUNOLOGY (2016)

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NATURE IMMUNOLOGY

卷 17, 期 5, 页码 472-474

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NATURE PUBLISHING GROUP

DOI: 10.1038/ni.3420

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Immunology

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Patients with XLPDR are found to carry an intronic hypomorphic mutation in the gene encoding the catalytic subunit of DNA polymerase-alpha. Patients' cells display low levels of cytoplasmic RNA: DNA hybrids, which increases the expression of interferon-alpha-induced genes, a hallmark of monogenic 'type I interferonopathies'.

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Review Genetics & Heredity

Mendelian susceptibility to mycobacterial disease: an overview

Abderrahmane Errami, Jamila El Baghdadi, Fatima Ailal, Ibtihal Benhsaien, Kaoutar Ouazahrou, Laurent Abel, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Jacinta Bustamante, Ahmed Aziz Bousfiha

Summary: This article provides a global and updated description of the most important molecular, cellular, and clinical features of all known monogenic defects of MSMD. Over the last 20 years, 19 genes were found to be mutated in MSMD patients, and the allelic heterogeneity at these loci has led to the definition of 35 different genetic defects. Despite the clinical and genetic heterogeneity, almost all genetic etiologies of MSMD alter the interferon gamma (IFN-gamma)-mediated immunity.

EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS (2023)

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