0000000000609478

AUTHOR

Giorgio Radetti

showing 3 related works from this author

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients

2021

Abstract Background Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison’s disease (AD). Methods Autoimmune conditions and associated autoantibodies (Abs) were analyzed in 158 Italian patients (103 females and 55 males; F/M 1.9/1) at the onset and during a follow-up of 23.7 ± 15.1 years. AIRE mutations were determined. Results The prevalence of APS-1 was 2.6 cases/million (range 0.5–17 in different regions). At the onset 93% of patients presented with one or more component…

MaleTranscription FactorEndocrinology Diabetes and MetabolismAutoimmune hepatitisGene mutationGastroenterologyChronic mucocutaneous candidiasisEndocrinologyAddison DiseaseAutoimmune Polyglandular Syndrome type 1 (APS-1)PrevalenceMedicineChronic mucocutaneous candidiasisPolyendocrinopathies AutoimmuneCandidiasis Chronic MucocutaneouAddison’s disease AIRE gene mutations Autoimmune Polyglandular Syndrome type 1 (APS-1) Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED) Chronic hypoparathyroidism Chronic mucocutaneous candidiasis Interferon autoantibodiesCandidiasis Chronic MucocutaneousAIRE gene mutations; Addison’s disease; autoimmune polyglandular syndrome type 1 (APS-1); autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED); chronic hypoparathyroidism; chronic mucocutaneous candidiasis; interferon autoantibodiesAutoimmune regulatorAutoantibodieItalyInterferon autoantibodieAddison's diseaseInterferon Type IOriginal ArticleFemaleChronic hypoparathyroidismHumanAdultmedicine.medical_specialtyAutoimmune GastritisHypoparathyroidismAddison’s diseaseAIRE gene mutationsInternal medicineInterferon autoantibodiesHumansMortalityAutoantibodiesAddison’s disease; AIRE gene mutations; Autoimmune Polyglandular Syndrome type 1 (APS-1); Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED); Chronic hypoparathyroidism; Chronic mucocutaneous candidiasis; Interferon autoantibodiesbusiness.industryChronic mucocutaneous candidiasiAIRE gene mutationAutoantibodymedicine.diseaseAutoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED)Interferon autoantibodies.Autoimmune polyendocrine syndrome type 1MutationbusinessTranscription Factors
researchProduct

Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy.

2012

<b><i>Background/Aims:</i></b> Mutations of the short stature homeobox-containing <i>(SHOX)</i> gene on the pseudoautosomal region of the sex chromosomes cause short stature. GH treatment has been recently proposed to improve height in short patients with SHOX deficiency. The aim of this study was to evaluate GH secretion and analyze growth and safety of recombinant human GH (rhGH) therapy in short children and adolescents with SHOX deficiency. <b><i>Patients and Design:</i></b> We studied 16 patients (10 females; 9.7 ± 2.9 years old; height –2.46 ± 0.82 standard deviation score, SDS) with SHOX deficiency. All subjects underwent au…

MaleLanger-Giedion SyndromeEndocrinology Diabetes and MetabolismSHOX deficiencyPseudoautosomal regionMadelung deformityLer Weill syndromelaw.inventionEndocrinologySettore MED/38 - Pediatria Generale E SpecialisticaShort Stature Homeobox ProteinGH treatmentShort Stature Homeobox ProteinlawSHOX DeficiencyChildGrowth DisordersHuman Growth HormoneGrowth hormone secretionRecombinant ProteinsGHRecombinant Human GHChild PreschoolRecombinant DNAFemalemedicine.symptomSHOX Deficiencymedicine.medical_specialtyAdolescentNoseOsteochondrodysplasiasShort statureFingersInternal medicinemedicineHumansLéri–Weill dyschondrosteosisGeneLeri-Weill dyschondrosteosiHomeodomain Proteinsbusiness.industrymedicine.diseaseBody HeightSHOX Deficiency; Ler Weill syndrome; Recombinant Human GHShort statureEndocrinologyGrowth HormonePediatrics Perinatology and Child HealthbusinessHair DiseasesSHOX
researchProduct

Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectoderma…

2009

Summary Objective   Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare syndrome characterized by chronic candidiasis, chronic hypoparathyroidism and Addison's disease. APECED has been associated with mutations in autoimmune regulator (AIRE) gene. Our aim is to perform a genetic analysis of the AIRE gene in Italian APECED patients and in their relatives. Design  AIRE mutations were determined by DNA sequencing in all subjects. Patients were tested for clinical autoimmune or non-autoimmune diseases, or for organ and non-organ specific autoantibodies. Patients   A total of 24 Italian patients with APECED (15 from the Venetian region, 2 from Southern-Tyrol, 4 from…

AdultMaleHeterozygotemedicine.medical_specialtyanimal structuresAdolescentHypoparathyroidismEndocrinology Diabetes and MetabolismGene mutationmedicine.disease_causeCompound heterozygositySettore MED/13 - EndocrinologiaCohort StudiesLoss of heterozygosityYoung AdultEndocrinologyAddison DiseaseInternal medicinemedicineHumansChildPolyendocrinopathies AutoimmuneAgedGeneticsMutationGenetic heterogeneitybusiness.industryHomozygoteCandidiasisAutoantibodyAutoimmune polyendocrinopathyMiddle AgedAutoimmune regulatorEndocrinologyItalyCase-Control StudiesMutationAPS1 AIRE APECEDFemalebusinessTranscription Factors
researchProduct