Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
EMN Ferré, MM Schmitt, MS Lionakis - Frontiers in pediatrics, 2021 - frontiersin.org
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known
as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune …
as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune …
Type 3 autoimmune polyglandular syndrome (APS-3) or type 3 multiple autoimmune syndrome (MAS-3): an expanding galaxy
C Betterle, J Furmaniak, C Sabbadin, C Scaroni… - Journal of …, 2023 - Springer
Background The number of recognised distinct autoimmune diseases (AIDs) has
progressively increased over the years with more than 100 being reported today. The …
progressively increased over the years with more than 100 being reported today. The …
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1
Background Autoimmune polyendocrine syndrome type 1 (APS-1) is a life-threatening,
autosomal recessive syndrome caused by autoimmune regulator (AIRE) deficiency. In APS …
autosomal recessive syndrome caused by autoimmune regulator (AIRE) deficiency. In APS …
Monogenic adult-onset inborn errors of immunity
F Staels, T Collignon, A Betrains, M Gerbaux… - Frontiers in …, 2021 - frontiersin.org
Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic
defects that functionally impact the development and/or function of the innate and/or …
defects that functionally impact the development and/or function of the innate and/or …
Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach
G Bjørklund, M Pivin, T Hangan, O Yurkovskaya… - Autoimmunity …, 2022 - Elsevier
Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive hereditary
pathology that develops with endocrine and non-endocrine manifestations in childhood. The …
pathology that develops with endocrine and non-endocrine manifestations in childhood. The …
Beyond skin white spots: Vitiligo and associated comorbidities
Z Hu, T Wang - Frontiers in Medicine, 2023 - frontiersin.org
Vitiligo is a common depigmentation disorder of an unknown origin characterized by the
selective loss of melanocytes, resulting in typical white macules and patches. However …
selective loss of melanocytes, resulting in typical white macules and patches. However …
Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
BE Oftedal, K Assing, S Baris, SL Safgren, IS Johansen… - Iscience, 2023 - cell.com
Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease
characterized by severe and childhood onset organ-specific autoimmunity caused by …
characterized by severe and childhood onset organ-specific autoimmunity caused by …
Study of the thyroid profile of patients with alopecia
Thyroid hormones are required for the physiological growth and maintenance of hair
follicles. We aim to study the thyroid profile of patients with alopecia. This is a narrative …
follicles. We aim to study the thyroid profile of patients with alopecia. This is a narrative …
Renin and electrolytes indicate the mineralocorticoid activity of fludrocortisone: a 6 year study in primary adrenal insufficiency
F Ceccato, M Torchio, I Tizianel, M Peleg Falb… - Journal of …, 2023 - Springer
Context Fludrocortisone (FC) is the mineralocorticoid (MC) replacement treatment for
patients with primary adrenal insufficiency (PAI). Objective To explore the dose of FC …
patients with primary adrenal insufficiency (PAI). Objective To explore the dose of FC …
Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or
polyglandular autoimmune syndrome type 1 (PAS-1/APS-1), is a rare autosomal recessive …
polyglandular autoimmune syndrome type 1 (PAS-1/APS-1), is a rare autosomal recessive …