hrp0094p1-66 | Diabetes B | ESPE2021

Mortality in children with monogenic diabetes

Globa Eugenia , Zelinska Natalia , Franco Elisa De , Houghton Jayne , Johnson Matthew , Ellard Sian ,

Background: In this study we investigated mortality in children with monogenic diabetes.Methods: Within the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with type 1 diabetes mellitus (DM1) 0-17 y.o. in 2019 was 9860 (1 in 769), with DM2 - 36 (1 in 210,547) with neonatal DM (NDM) - 66 (1 in 115,000), with MODY - 40 cases (1 in 114,844). We used targeted next generation sequencing (tNGS) of all known...

hrp0094p1-75 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Congenital hyperinsulinism diagnosed after 12 months can have a monogenic aetiology

Hopkins Jasmin , Childs Alexandra , Hewat Thomas , Patel Kashyap , Houghton Jayne , Johnson Matthew , Laver Thomas , Flanagan Sarah ,

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

hrp0094p2-109 | Diabetes and insulin | ESPE2021

Clinical Case of Cystic Fibrosis-like and APECED-like Syndrome due to Gain-of-Function Variant in STAT1

Vasilev Teodor , Johnson Matthew , Yaneva Natasha , Slavcheva Olga , Modeva Iskra , Hattersley Andrew , Savova Radka ,

Background: STAT1 mutations can cause an extensive spectrum of disease, varying from severe bacterial and viral infections to mild disseminated mycobacterial disease, also chronic mucocutaneous candidiasis. Many patients present with autoimmune manifestations as type 1 diabetes, hypothyroidism and systemic lupus erythematosus. There are risks of cancers and cerebral aneurysms.Aim: To present the clinical manifes...

hrp0086p2-p573 | Perinatal Endocrinology P2 | ESPE2016

IPEX Syndrome Caused by A Novel Mutation in Foxp3 Gene: A Case Report

Bich Ngoc Can Thi , Chi Dung Vu , Phuong Thao Bui , Ngoc Khanh Nguyen , Thanh Mai Do Thi , Johnson Matthew , De Franco Elisa , Ellard Sian

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare and life-threatening primary immunodeficiency characterized by widespread autoimmunity. Mutations in the FOXP3 gene have been identified as the cause for IPEX syndrome.Objective and hypotheses: To describe clinical characteristics and genetic finding in the first Vietnamese patient with mutation of FOXP3 gene.Meth...

hrp0089rfc3.3 | Diabetes and Insulin 1 | ESPE2018

Significant Prevalence of Severe Monogenic Immune Defects Among Children with Type 1 Diabetes and Low T1D-Genetic Risk Score

Pruhova Stepanka , Strakova Veronika , Elblova Lenka , Johnson Matthew B , Dusatkova Petra , Obermannova Barbora , Petruzelkova Lenka , Kolouskova Stanislava , Snajderova Marta , Fronkova Eva , Svaton Michael , Lebl Jan , Hattersley Andrew T , Sumnik Zdenek

Introduction: Monogenic Type 1 diabetes (T1D) is a rare disease caused by pathogenic variant in a single gene leading to dysregulation of immune system. T1D is combined with other autoimmunity like immune cytopenias, inflammatory bowel disease, rheumatoid arthritis, atopic eczema, autoimmune thyroid disease etc in these patients. Pathogenic variants in the AIRE, FOXP3, LRBA, IL2RA, CTLA4, STAT3 and STAT1 genes have...