Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

Abstract

Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the AIRE gene is responsible for APECED. The author presents a case of APECED with a single AIRE mutation. Whole exome sequencing identified a mutation in the BTNL2 gene that the author suggests may have contributed to the patient’s presentation.

Common Variable Immunodeficiency and Selective IgA Deficiency: Focus on Autoimmune Manifestations and Their Pathogenesis

“…Autoimmunity and primary immunodeficiencies were once considered diametrically opposed; in recent decades, the attention paid to the link between the two has grown, both because they are frequently associated [1,2], and for the possible therapeutic implications resulting from a greater insight into their pathogenesis. The dichotomy between immunodeficiencies and autoimmunity was challenged at the end of the last century by the identification of genetic diseases characterized by infections, autoimmunity, inflammation, immune dysregulation, allergies, and a predisposition to malignancies [3].…”