Article

CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with Pulmonary Alveolar Proteinosis: A Case Report

2023-02-03

Abstract excerpt

<h4>Background: </h4> D40LG -associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive. Case Presentation: We describe a five-month-old boy with CD40LG mutation (c.516T>A, p.Tyr172Ter) X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis as the first manifestation. The patient completely recovered after i...

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Literature Corpus work: f202cb2b-7b39-5cba-96b3-893181ca2c40
DOI: 10.21203/rs.3.rs-2501253/v1

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