Autoimmune diseases are a wide and highly heterogeneous group of conditions, sharing a self-reactive adaptive immune response, antibodies, or T cells. They can affect multiple body organs and tissues, with variable combinations and manifestations, depending on genetic and environmental factors. APS (autoimmune polyendocrine syndromes) define the concurrence of multiple autoimmune endocrinopathies, typically associated with non-endocrine autoimmune diseases. Based on the typical clinical manifestations, four main types of APS (1–4) have been recognized, although some authors still prefer to group these disorders into two main variants: APS1 or APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy), monogenic, caused by AIRE gene mutations, typically manifesting in childhood and comprehending chronic mucocutaneous candidiasis with hypoparathyroidism and/or autoimmune Addison’s disease, and APS2, polygenic, associated with predisposing HLA profiles, including all other combinations of polyendocrinopathies, with adult onset. Other rarer and more recently identified entities, namely, IPEX (immune dysregulation, polyendocrinopathy, enthesopathy, X-linked), CD25 deficiency and IPEX-like due to STAT-1 mutation syndrome, POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes syndrome), anti-Pit-1 antibody syndrome, IgG4-related disease, and ROHHADNET (rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, neuroendocrine tumor) syndrome are now considered part of the APS group. This chapter provides an overview on the epidemiology, genetics, etiopathogenesis, immunological and clinical profile, as well as treatment and outcome of these disorders.
Guaraldi F., Asioli S., Marino Picciola V., Mazzatenta D., Corona G. (2021). Rare Forms of Endocrine and Systemic Autoimmune Disorders: IPEX and Other POEMS. Berlino : Springer [10.1007/978-3-319-89497-3_7].
Rare Forms of Endocrine and Systemic Autoimmune Disorders: IPEX and Other POEMS
Asioli S.;Marino Picciola V.;Mazzatenta D.;
2021
Abstract
Autoimmune diseases are a wide and highly heterogeneous group of conditions, sharing a self-reactive adaptive immune response, antibodies, or T cells. They can affect multiple body organs and tissues, with variable combinations and manifestations, depending on genetic and environmental factors. APS (autoimmune polyendocrine syndromes) define the concurrence of multiple autoimmune endocrinopathies, typically associated with non-endocrine autoimmune diseases. Based on the typical clinical manifestations, four main types of APS (1–4) have been recognized, although some authors still prefer to group these disorders into two main variants: APS1 or APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy), monogenic, caused by AIRE gene mutations, typically manifesting in childhood and comprehending chronic mucocutaneous candidiasis with hypoparathyroidism and/or autoimmune Addison’s disease, and APS2, polygenic, associated with predisposing HLA profiles, including all other combinations of polyendocrinopathies, with adult onset. Other rarer and more recently identified entities, namely, IPEX (immune dysregulation, polyendocrinopathy, enthesopathy, X-linked), CD25 deficiency and IPEX-like due to STAT-1 mutation syndrome, POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes syndrome), anti-Pit-1 antibody syndrome, IgG4-related disease, and ROHHADNET (rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, neuroendocrine tumor) syndrome are now considered part of the APS group. This chapter provides an overview on the epidemiology, genetics, etiopathogenesis, immunological and clinical profile, as well as treatment and outcome of these disorders.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
