Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation.
Xue GongYunru HeGuoyan LuYulin ZhangYu QiuLina QiaoYifei LiPublished in: BMC medical genomics (2022)
Usually, XHIGM would not be suspected with a normal plasma immunoglobulin concentration. However, as we could not identify a potential comorbidity or risk factor, exome sequencing helps target this patient's real facts. Thus, this case report calls for exome sequencing to be performed in the case of unexplained infections when immunodeficiency is suspected after general immunological tests, especially for cases with a contributive family history among infants as the maternal transfused immunoglobulin might mask immune deficiency.
Keyphrases
- case report
- rare case
- single cell
- copy number
- risk factors
- acute respiratory distress syndrome
- extracorporeal membrane oxygenation
- gene expression
- birth weight
- mechanical ventilation
- dna methylation
- risk assessment
- obstructive sleep apnea
- body mass index
- replacement therapy
- human health
- weight gain
- positive airway pressure