A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes

High-risk genotypes HLA-DR3-DQ2/DR3-DQ2 and DR3-DQ2/DR4-DQ8 in co-occurrence of type 1 diabetes and celiac disease

(2016) Darja Smigoc Schweiger et al.   AUTOIMMUNITY

Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

(2016) Kashyap A. Patel et al.   DIABETES

Fetal-onset IPEX: Report of two families and review of literature

(2015) Mariana Moraes Xavier-da-Silva et al.   CLINICAL IMMUNOLOGY

A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults

(2015) Richard A. Oram et al.   DIABETES CARE

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

(2015) Elisa De Franco et al.   LANCET

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

(2015) Yun R Li et al.   NATURE MEDICINE

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

(2015) B. Lo et al.   SCIENCE

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3

(2014) E. M. Haapaniemi et al.   BLOOD

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

(2014) J. D. Milner et al.   BLOOD

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

(2014) Sarah E Flanagan et al.   NATURE GENETICS

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

(2013) S. Ellard et al.   DIABETOLOGIA

Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome

(2013) Vito Lampasona et al.   PLoS One

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

(2012) Eva d'Hennezel et al.   JOURNAL OF MEDICAL GENETICS

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes

(2011) T. J. McDonald et al.   DIABETIC MEDICINE

C-peptide in the classification of diabetes in children and adolescents

(2011) J Ludvigsson et al.   PEDIATRIC DIABETES

The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies

(2010) Masanobu Tsuda et al.   JOURNAL OF AUTOIMMUNITY

Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I

(2009) E. S. Husebye et al.   JOURNAL OF INTERNAL MEDICINE

Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

(2008) O. Rubio-Cabezas et al.   DIABETES CARE