A rare case of polyglandular autoimmune syndrome type IIIc with primary antibody failure

作者：Stanciu Adina Elena; Sava Florentina^*; Toldi Gergely

来源：Gynecological Endocrinology, 2018, 34(4): 283-285.

DOI：10.1080/09513590.2017.1391775

• Polyglandular autoimmune syndrome type IIIc
• autoimmune thyroiditis
• autoimmune alopecia diffusa
• primary ovarian insufficiency
• primary antibody failure

Primary antibody deficiency syndromes are a rare group of disorders present at any age, with complex polygenic disorders. We report the forth case of polyglandular autoimmune syndrome (PAS) type IIIc worldwide with complex clinical features and no family history of endocrine disorders or primary immunodeficiencies. Our patient, a 44-year-old Caucasian female was diagnosed with PAS type IIIc due to the presence of autoimmune thyroiditis, autoimmune alopecia diffusa and primary ovarian insufficiency, associated with lymphoproliferative disease and primary antibody failure. Treatment included lifelong intravenous immunoglobulin, supplements and antibiotics. The clinical complexity and rare occurrence made it challenging to determine diagnosis and provide better treatment for the patient. The current case provides an insight of the challenges to determine primary antibody failure signs in the presence of PAS which will further help to determine diagnosis and therapeutic treatment for PAS patients.

• 出版日期2018