Article

Loss of function mutation in<i>ELF4</i>causes autoinflammatory and immunodeficiency disease in human

2021-09-25

Abstract excerpt

Monogenic autoinflammatory diseases (mAIDs) are a heterogeneous group of diseases affecting primarily innate immunity, with various specific genetic causes. Genetic diagnosis of mAIDs can assist in the patient’s management and therapy. However, a large number of sporadic and familial cases remain genetically uncharacterized. Here, we described a pediatric patient suffering from recurrent viral and bacterial respir...

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Literature Corpus work: a6daac95-3bfd-5897-bc68-709f8d820454
DOI: 10.1101/2021.09.22.21263689

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