Introduction: Polyendocrine autoimmune syndrome is a group of disorder involving endocrine glands as a consequence of autoimmunity. Non-endocrine organs also may be affected. An association between autoimmunity and immunodeficiency has also been recognized. We report a case of polyglandular autoimmune disease associated with common variable immunodeficiency.
Case report: A 26-year-old was diagnosed with Addison disease at the age of 4 following recurrent admission for nausea, vomiting and hypoglycaemia. At the age of 5, she developed recurring episodes of ITP triggered by infections. She was further diagnosed to have hypothyroidism at the age of 6 years requiring thyroxine replacement. Grouping of the three diseases, i.e., Addisons, ITP and hypothyroidism suggested a combined diagnosis of polyglandular autoimmune disease. At the age of 17 years she developed alopecia totalis and vitiligo. She subsequently developed auto-immune hemolytic anemia and a persistent hypomagnesaemia thought to be secondary to renal tubular dysfunction. A recent prolonged admission was associated with recurrent sepsis of unknown source, responsive on each occasion to broad spectrum antibiotic therapy. A multitude of investigations were performed during this period, including labeled WBC scans, infection screens (bacterial, parasitic, and fungal) and an immunoglobulin profile. This demonstrated low T-helper (low CD4), low lymphocyte count, and low IgG and IgA (IgG 2.87 and IgA 0.35). She now has confirmation of common variable immunodeficiency and remains under follow up by the department of immunology at the University Hospital of Wales, requiring long term immunoglobulin transfusions.
Conclusion: Systemic autoimmunity and immunodeficiency are not different entities and may be interconnected. Immunodeficiency, although usually caused by a defect in the immune system, can occasionally be secondary to an autoimmune process. The over lap of symptoms and presentations of both suggest that immunodeficiency should be considered in autoimmune diseases and vice versa.