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

Abstract

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.

Chinese abstract

原发性免疫缺陷综合征是出现于任何年龄的一组罕见疾病, 是复杂的多基因疾病。我们报告了全世界第四例多腺体自身免疫综合征（PAS）IIIc型病例, 其有复杂的临床特征, 但没有原发性免疫缺陷及内分泌失调家族史。我们的这位44岁白人女性患者由于存在与淋巴增生性疾病和原发性抗体缺失有关的自身免疫性甲状腺炎, 自身免疫性脱发症和原发性卵巢功能不全, 而被诊断为PAS IIIc型。治疗包括终身静脉注射免疫球蛋白补充剂及抗生素。复杂的临床特征和罕见的发病率使得确诊以及为患者提供更好的治疗具有挑战性。该病例为原发性抗体缺失是确诊PAS的证据这一有争议的问题提供了佐证, 这将进一步明确PAS患者的诊断和治疗方法。

Keywords:

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

Disclosure statement

The authors of this manuscript declare no conflicts of interest.