Molecular, cellular, and clinical studies of human inborn errors of immunity have
revolutionized our understanding of their pathogenesis, considerably broadened their …

Mutations in the transcriptional regulator, Aire, cause APECED, a polyglandular autoimmune
disease with monogenic transmission. Animal models of APECED have revealed that Aire …

INTRODUCTION Studies of monogenic diseases have uncovered the importance of immune
pathways in human tissue-specific immunity and antimicrobial defense. In particular, human …

Commensal microbes can have a substantial impact on autoimmune disorders, but the
underlying molecular and cellular mechanisms remain largely unexplored. We report that …

Anti-cytokine autoantibodies (ACAAs) are increasingly recognized as modulating disease
severity in infection, inflammation and autoimmunity. By reducing or augmenting cytokine …

Autoimmune polyendocrine syndrome type I (APS‐I) is a monogenic model disease of
autoimmunity. Its hallmarks are chronic mucocutaneous candidosis, hypoparathyroidism …

The promiscuous expression of tissue-restricted antigens in the thymus, driven in part by
autoimmune regulator (Aire), is critical for the protection of peripheral tissues from …

The discovery of the autoimmune regulator (AIRE) protein and the delineation of its critical
contributions in the establishment of central immune tolerance has significantly expanded …

Background Autoimmune polyendocrine syndrome type 1 (APS-1) is a life-threatening,
autosomal recessive syndrome caused by autoimmune regulator (AIRE) deficiency. In APS …

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known
as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune …