Article

A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of Hyper IgE syndromes in two Chinese families

2022-06-03

Abstract excerpt

<title>Abstract</title> <p>Background X-linked hyper IgM syndromes (X-HIGM) and autosomal recessive hyper IgE syndromes (HIES) are rare primary immunodeficiency diseases, characterized by recurrent infections due to the impairment in immune system. This study was aimed to investigate genotype-phenotype association and reveal the novel likely pathogenic mutations in <italic>CD40L</italic> and <italic>DOCK8</itali...

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Literature Corpus work: a47ecbe3-b0d5-5440-a9ae-21a196b50992
DOI: 10.21203/rs.3.rs-1559788/v1

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