More Than Meets the IPEX: Finding the Right Source in an Immunosuppressed Patient

Document Type

Clinical Case Reports

Date of Poster


Date of Submission

May 2020


Patients with immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome usually present with autoimmunity, but are also prone to significant infections. In this case report, we introduce a 21-year-old gentleman with IPEX syndrome who presented to our ED with witnessed episodes of tonic-clonic seizures that likely represented aseptic meningitis secondary to Ehrlichia infection.

We determined that our patient’s clear exposure history to animals likely carrying zoonotic diseases fits the clinical picture of aseptic meningitis that was triggered by systemic tick-borne infection. We were able to make our conclusions based on our patient’s multiple negative viral and bacterial in both blood and spinal cultures, CSF fluid showing a lymphocytic pleocytosis, and ultimately a positive PCR for Ehrlichia chaffeensis in his serum. Our patient ultimately received a timely course of oral doxycycline.

Although our patient has had several autoimmune disorders that are common in IPEX syndrome, he also has had hypomorphic infectious presentations throughout his life, which is often more severe and fatal in early childhood. Our theory is that our patient has several protective factors in his disease course, including: 1) likely a lack of full penetrance of his FOXP3 mutation, and 2) ongoing treatment with sirolimus helping to restore the balance between Regulatory T cells (T-reg) and Effector T cells interactions, allowing for a relatively more robust immune response compared to HIV/AIDS or transplant patients who likely have much more significant immunosuppression.

Clinical pearls learned from this case demonstrates the importance of performing a comprehensive workup, including testing for atypical infections, in patients with immune dysregulation syndromes who present with symptoms of unclear etiology. Additionally, our case also highlights that empiric antibiotic therapy may need to be considered early to prevent delays in treatment, especially in patient with known exposure risks to zoonotic diseases.


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