Oct 25, 2019
The participant first had an episode of pneumonia at 6 months old. Over time, his episodes became more severe and by 6 years old he began coughing up thick, mucus molds of the inner lining of his bronchial tubes (bronchial casts). Evaluations showed extensive airway damage thought to be due to chronic difficulty breathing (aspiration). A lung biopsy revealed features of plastic bronchitis. A recent scan also found that there was abnormal lymphatic drainage within the thorax.
The participant has recurrent ear infections (otitis media), which occur about 4-5 times a year. Over time he also developed low lymphocyte levels (lymphopenia).
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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