The patient mentioned that when she went to the grocery store, she would put things in her cart and as she pushed further with the cart, her hands would start to cramp. This experience didn’t seem to fit a typical explanation of fibromyalgia, Dr. Kumar said.
Her nails also had a dystrophy common in recurrent fungal infections.
He ordered some tests, including one for calcium. The laboratory results revealed the patient’s calcium was low enough to warrant hospitalization.
They discovered she had a subclinical variant of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
It’s not always easy to identify inborn errors of immunity.
“We were able to get a diagnosis because we were thinking a little bit outside the box,” he said. “I wish I could provide an easy mnemonic for immune deficiencies. Unfortunately, I can’t. But there are a lot of different conditions out there that can mimic immune deficiencies, and many of them are rheumatological in nature.”
Patient Management
According to Dr. Kumar, treatment for patients with inborn errors of immunity may include the following:
- Subcutaneous immunoglobulin for those with antibody-mediated disorders;
- Recurrent antibiotics: “This is something that’s fallen out of favor for very good reason, but it’s useful for people who are getting antibiotics anyway on a very frequent basis,” he said. “So [ordering antibiotics] ahead of time instead of afterward may not be a bad idea.” Suppressive antivirals and antifungals also fall under this umbrella;
- Biologic medications: Some genetic mutations are amenable to certain types of biologics, he noted;
- Stem cell transplants and chimeric antigen receptor T cell (CAR T) therapy: Although not routine, this approach could be used more often in the future, Dr. Kumar said.
If a patient with arthritis or another rheumatic condition has an inborn error of immunity, they should be seen by both a rheumatologist and a clinical immunologist, Dr. Kumar advised. The two specialists can negotiate where each one feels comfortable offering treatment.
If it’s of interest to the physician, a dual certification in allergy/immunology and rheumatology—which Dr. Kumar has—is a useful way to truly understand these specific patients.
Rheumatologists and immunologists should help ensure this patient group stays up to date on preventive measures, including getting vaccines and performing frequent handwashing. However, be mindful that live vaccines should not be used with certain immune deficiencies.
Vanessa Caceres is a medical writer in Bradenton, Fla.
