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Article

Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation.

BMC medical genomics - 8 Jul 2022

Gong Xue, He Yunru, Lu Guoyan, Zhang Yulin, Qiu Yu, Qiao Lina, Li Yifei

Abstract excerpt

BACKGROUND: Acute respiratory distress syndrome (ARDS) causes significant mortality in young children with certain diseases. Early diagnosis and treatment can reduce infant mortality. Here, we report a rare case of exome sequencing in the early diagnosis of immunodeficiency in an infant. CASE PRESENTATION: A four-month-old full-term male infant presented with severe shortness of breath, hypoxemia, and unexplained...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35804376
DOI: 10.1186/s12920-022-01303-y
PMCID: PMC9264746

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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