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Participant 058


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Female, age 2 with an undiagnosed autoimmune condition

Date of Report

Mar 16, 2018

Description

When the participant was first born, she was in the NICU for 15 days due to issues with her liver and body temperature regulation. Over the course of the next few months, she had several infections. At 10 months of age, her energy levels were very low, she had trouble feeding, and started to show signs of jaundice. At this time, she was diagnosed with giant cell hepatitis, which was treated with steroids. She was also found to have autoimmune blood disorder that leads the body to destroy platelets (autoimmune thrombocytopenia) and red blood cells (autoimmune hemolytic anemia), which has been treated with IVIG and prednisone.

When she turned 1-year-old, she began to have frequent fevers, swelling in her limbs, severe diarrhea, and vomiting episodes. She was found to have enteritis with anti-enterocyte antibodies, which was also treated with steroids, and nephrotic syndrome.

Despite a very thorough workup, the cause of her autoimmune condition has not been found.  She is currently treated with Cellcept and prednisone.

Symptoms / Signs
  • Immune dysregulation
  • Abnormal memory B cell count
  • Decreased antibody levels
  • Antibodies that target normal proteins (antinuclear antibody positivity)
  • Blood disorders (autoimmune hemolytic anemia, autoimmune thrombocytopenia)
  • High blood pressure (hypertension)
  • Abnormality of the intestine
  • Giant cell hepatitis
  • Increased protein in urine (heavy proteinuria)
Current Treatments
  • Cellcept, Prednisone
Prior Treatments
  • Azathioprine- hepatitis
  • IVIG- autoimmune thrombocytopenia
Considered treatments
Previously Considered Diagnoses
  • Genetic autoimmunity syndrome (negative exome sequencing)
Other Photographs
Genetic Variants of Interest
Contact

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