Fabienne Charbit-Henrion

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Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type 1 diabetes mellitus, hypothyroidism, adrenal insufficiency, and vitiligo. Lipopolysaccharide (LPS)-responsive beige-like anchor protein (LRBA) deficiency was described in 2012 as a novel primary(More)
OBJECTIVE Early-onset inflammatory bowel diseases can result from a wide spectrum of rare mendelian disorders. Early molecular diagnosis is crucial in defining treatment and in improving life expectancy. Herein we aimed at defining the mechanism of an immunodeficiency-polyendrocrinopathy and enteropathy-X-linked (IPEX)-like disease combined with a severe(More)
Dear Editor: Crohn’s disease (CD) is an idiopathic, chronic inflammatory process that can affect any part of the gastrointestinal tract. Susceptibility to disease is influenced by a complex interplay of genetic and environmental factors. Most of the genes thought to be involved in the development of the disease play a role in mucosal immunity, and their(More)
Propionic acidemia (PA) is a severe metabolic disorder with cardiac and neurologic complications and a poor quality of life. Liver transplantation (LT) was thus proposed in PA to increase enzyme activity. We studied retrospectively LT in PA in two European centers. Twelve patients underwent 17 LTs between 1991 and 2013. They developed severe, unusual and(More)
OBJECTIVE Anastomotic ulceration (AU) is a rare complication after intestinal resection and anastomosis, described mostly in children. The main symptom is occult bleeding, leading to iron-deficiency anemia, which is life threatening. METHODS The present survey reports a series of patients with AU after intestinal resection in infancy, focusing on(More)
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