AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 WITH CVID TREATED WITH MYCOPHENOLATE AND IVIG

Abstract

Introduction Autoimmune Polyendocrine Syndrome (APS) Type 1 is a rare autosomal recessive disorder characterized by candidiasis with the coexistence of at least two glandular autoimmune diseases. It is caused by mutations of the AIRE gene encoding for the transcription factor involved in immune tolerance mechanisms and contributes to autoreactive T lymphocyte negative selection. Candidiasis is the most common initial manifestation, followed by progressive endocrine dysfunction. Management of APS is aimed at symptomatic resolution of the dysfunction, such as systemic antifungals, glucocorticoids, insulin, calcium, vitamin D, and vitamin B12. Immunosuppressant therapies have been utilized with variable results. Case Description A 41-year-old female, with history of candidiasis, hypoparathyroidism, and premature ovarian failure in the context of APS Type 1, presented with common variable immunodeficiency (CVID). Additional manifestations included Sjogrens syndrome, diffuse vitiligo, autoimmune hepatitis, pernicious anemia, and autoimmune pneumonitis. She was started on intravenous immunoglobulin therapy 15 g monthly and treated with prednisone 40 g daily until she could be tapered off steroids. Her condition worsened after she experienced recurrent pulmonary exacerbations with sputum cultures growing multiple pathogenic organisms. Prednisone was restarted to treat autoimmune pneumonitis. She was transitioned to mycophenolate 1080 mg divided between two doses daily with good symptom control and tapered off prednisone. Discussion Although immunosuppressive therapy is not routinely used in patients with APS Type 1, the constellation of symptoms, including autoimmune pneumonitis, have shown improvement in other similar cases with mycophenolate treatment. This case demonstrates APS Type 1 improvement with mycophenolate therapy.