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Heterozygous RAG 1

Question:

10/20/2020
A 24 year-old F, JIA since age 10, Hx of episcleritis, Hashimoto's, scoliosis (spinal fusion), and MTHFR mutation recently had Invitae Genetic testing done which showed heterozygous RAG1 mutation. She's currently doing well on Humira and levothyroxine. She needs antibiotics about once every other year, usually for a UTI. She does not get viral infections often. Mild rhinitis symptoms. No asthma or eczema or food allergy. She clearly does not have SCID and I don't see that she needs anything else other than reassurance and no additional work-up. I don't have pre-Humira antibody levels. Just want to make sure I'm not missing anything.

Answer:

The critical question is with a heterozygous RAG1 mutation is there more to be evaluated. We asked Dr. Sullivan for her thoughts: "I would not do anything more if her total T and B cell numbers are normal, vaccine responses intact and CD4/CD45RA is normal."

I hope this is helpful.

Andrew Murphy, MD, FAAAAI
Kathleen Sullivan, MD, PHD, FAAAAI