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Participant 156


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Female, age 1, with low T-cell lymphocyte levels (T-cell lymphopenia) and immune system abnormalities (decreased IgG level in blood)

Date of Report

Dec 20, 2019

Description

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).

Symptoms / Signs
  • Immune system abnormalities (decreased IgG level in blood)
  • Low white blood cell levels (leukopenia)
  • Low lymphocyte levels (lymphopenia)
  • Excess calcium in the blood (infantile hypercalcemia)
Current Treatments
  • Hizantra – immune system support
Prior Treatments
  • Intravenous immunoglobulin, prophylactic antibiotics – immune system support
Considered treatments
  • Chromosomal breakage syndromes
  • Primary immunodeficiency diseases (PIDD)
  • Severe Combined Immunodeficiency syndrome (SCID)
Previously Considered Diagnoses
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr17: 1782557
NM_002945.3
c.808A>G
p.T270A
Contact

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