Dec 20, 2019
The participant was born at 33 weeks and stayed in the NICU for three weeks. While in the NICU, she received breathing and nutrition support though a CPAP (Continuous Positive Airway Pressure) machine and NG (nasogastric) tube. She was identified by newborn screening to have very low T-cell lymphocyte levels. Since her T-cell levels are low, her immune system is weakened but the levels do not meet the criteria for a diagnosis of severe combined immunodeficiency syndrome (SCID).
The participant experienced growth deficiency as an infant, which has now resolved. A skeletal survey done at 8 months old was essentially normal. She also has a history of excess calcium in the blood (hypercalcemia).
The participant is currently 22 months old and receives treatment to boost her immune system (Hizantra).
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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