ESPEYB15 2 Antenatal and Neonatal Endocrinology FOXP3 mutations lead to early onset diabetes mellitus with no other clinical manifestations (1 abstracts)
FOXP3 mutations can lead to early onset diabetes mellitus with no other clinical manifestations
Hwang JL , Park SY , Ye H , Sanyoura M , Pastore AN , Carmody D , Del Gaudio D , Wilson JF , Hanis CL , Liu X , Atzmon G , Glaser B , Philipson LH , Greeley SAW & T2D-Genes Consortium
To read the full abstract: Pediatr Diabetes. 2018 May;19(3):388-392
Mutations in FOXP3 are associated with a severe, early-onset, autoimmunity syndrome known in males known as IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked; OMIM [Online Mendelian Inheritance in Man] 304930). The gene maps to chromosome Xp11.23 and encodes a 431–amino acid protein, also named ‘scurfin’, required for the generation and functioning of CD4+CD25+ regulatory T lymphocytes. FOXP3-expressing CD4+ T cells are potent suppressors of self-reactive T-cell activation and proliferation, presumably via direct cell-cell interaction. The lack of these cells results in an uncontrolled autoimmune reactivity in male patients with hemizygous FOXP3 mutations Most patients with IPEX syndrome described to date developed symptoms shortly after birth or during the first 3–4 months of life. The most common findings are enteropathy (nearly 100% of patients), diabetes (70%), skin disease (65%), failure to thrive (50%), thyroiditis (30%), and recurrent infections (20%). Less common features include autoimmune cytopenias, pneumonitis, nephritis, hepatitis, vasculitis, arthritis, myositis, and alopecia as well as lymphadenopathy and splenomegaly. The life expectancy of patients with IPEX syndrome rarely extends beyond infancy. However, a milder phenotype has been reported in a number of patients, who can live longer, sometimes into adulthood. Enteropathy was present in virtually all of them, although diabetes was frequently absent. Here, Hwang et al. describe cases of early onset diabetes mellitus (one at the age of 2.1 years) due to FOXP3 mutations and no other clinical features of the IPEX syndrome. These observations suggest that diabetes mellitus may be the only presenting feature of IPEX syndrome in some patients and other clinical features might develop later in life.
Volume 15
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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