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APECED in children

Ellia Mezgueldi, Aurélia Bertholet-Thomas, Solange Milazzo, Michael Morris, Justine Bacchetta, Nicole Fabien, Pierre Cochat, Anthony P Weetman, Elizabeth Helen Kemp, Alexandre Belot
Early diagnosis of potentially life-threatening autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is crucial, but is often delayed due to the clinical heterogeneity of the disorder. Even in the absence of the classic disease triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency, a diagnosis of APECED should be considered in children who have hypoparathyroidism and chronic keratitis, with a past medical history showing a mild and transient Candida infection...
October 2015: Clinical Case Reports
Saika Iwama, Ayako Ikezaki, Hisafumi Matsuoka, Mari Hoshi, Hirokazu Sato, Shigeki Miyamoto, Shigetaka Sugihara
Type 1 diabetes mellitus (DM) and Graves' disease are autoimmune diseases, and a number of genetic factors, including HLA and CTLA-4 genes, have been reported to contribute to their etiology. The gene responsible for autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED) has been cloned and named the autoimmune regulator-1 (AIRE-1) gene. AIRE-1 protein is thought to be a transcription regulatory protein and to have a role in the maintenance of immunological tolerance. The aim of this study was to determine whether heterozygous AIRE-1 gene mutations are associated with childhood-onset type 1 diabetes and Graves' disease in the Japanese population...
2005: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
E Puzenat, G Bellaud, P Saugier-Veber, C Crémillieux, B Mignot, P Humbert, F Aubin
BACKGROUND: Polyglandular auto-immune syndrome type 1 (PAS-1) or auto-immune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder linked to auto-immune regulator (AIRE) gene mutations. Herein, we report the case of a 3-year-old boy with APECED emphasizing the wide phenotypic variability and the extent of skin lesions. PATIENTS AND METHODS: A 3-year-old boy with a history of auto-immune hepatitis was referred for a generalized pruriginous urticaria-like eruption present for one month...
April 2014: Annales de Dermatologie et de Vénéréologie
Patrizia Matarazzo, Gerdi Tuli, Ludovica Fiore, Alessandro Mussa, Francesca Feyles, Valentina Peiretti, Roberto Lala
BACKGROUND: Subcutaneous recombinant human parathormone [rhPTH (1-34)] has been introduced for hypoparathyroidism treatment, allowing avoidance of vitamin D and calcium side effects. OBJECTIVE: Our objective was to evaluate rhPTH (1-34) safety and efficacy in pediatric patients with genetically proved syndromic hypoparathyroidism. METHODS: The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9...
January 2014: Journal of Pediatric Endocrinology & Metabolism: JPEM
D Capalbo, N Improda, A Esposito, L De Martino, F Barbieri, C Betterle, C Pignata, M Salerno
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease caused by mutations of the AutoImmune REgulator gene. The clinical spectrum of the disease encompasses several autoimmune endocrine and non-endocrine manifestations, which may lead to acute metabolic alterations and eventually life-threatening events. The clinical diagnosis is defined by the presence of at least two components of the classic triad including chronic mucocoutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), Addison's disease (AD)...
November 2013: Journal of Endocrinological Investigation
Magda Carneiro-Sampaio, Dewton Moraes-Vasconcelos, Cristina M Kokron, Cristina M A Jacob, Myrthes Toledo-Barros, Mayra B Dorna, Letícia A Watanabe, Ana Karolina B B Marinho, Ana Paula Moschione Castro, Antonio C Pastorino, Clóvis Artur A Silva, Maurício D Ferreira, Luiz V Rizzo, Jorge E Kalil, Alberto J S Duarte
Primary immunodeficiencies (PIDs) represent a large group of diseases that affect all age groups. Although PIDs have been recognized as rare diseases, there is epidemiological evidence suggesting that their real prevalence has been underestimated. We performed an evaluation of a series of 1,008 infants, children, adolescents and adults with well-defined PIDs from a single Brazilian center, regarding age at diagnosis, gender and PID category according to the International Union of Immunological Societies classification...
May 2013: Journal of Clinical Immunology
Nicolas Kluger, Martta Jokinen, Kai Krohn, Annamari Ranki
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) (or autoimmune polyendocrine syndrome type 1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene. It causes a loss in central immune tolerance, failure to eliminate autoreactive T cells in the thymus, and their escape to the periphery. APECED patients are susceptible to mucocutaneous candidiasis and multiple endocrine and nonendocrine autoimmune diseases. Although it depends on the series, approximately 25% of APECED patients are affected by gastrointestinal (GI) manifestations, mainly autoimmune-related disorders like autoimmune hepatitis, atrophic gastritis with or without pernicious anemia (Biermer disease), intestinal infections, and malabsorption...
February 2013: Journal of Clinical Gastroenterology
Hubert Bojar, Teresa Kłapeć
Recreational areas cover parks, bicycle paths, lawns, urban squares, sports complexes, holiday camp areas, playgrounds for children, beaches, and even spontaneously used green field open spaces. While using recreational areas, people take with them accompanying animals (dogs, cats). These animals constitute the main source and reservoir of many dangerous zoonoses, including parasitoses caused by roundworms of the genus Toxocara and Trichuris. The objective of the presented study was determination of the level of contamination of soil with parasites' developmental forms (eggs of Toxocara spp...
2012: Annals of Agricultural and Environmental Medicine: AAEM
Eve A Roberts
Autoimmune hepatitis (AIH) is an important entity within the broad spectrum of autoimmune hepatobiliary disease comprised of AIH, primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC). Since the 1960s, AIH has been investigated with extensive clinical research aimed at effective therapeutic intervention. It was one of the first liver diseases where treatment was demonstrated to prolong survival. AIH occurs in children, as well as in adults. Its clinical manifestations in children may differ from classic adult AIH...
November 2011: Liver International: Official Journal of the International Association for the Study of the Liver
E Puzenat, L Pepin, A-M Bertrand, F Pelletier, D Monnier, J Levang, I Mermet, P Humbert, F Aubin
INTRODUCTION: autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). We report the case of a young girl with APECED. CASE REPORT: an 18 year-old girl born to consanguineous parents consulted for diffuse alopecia. Dermatological examination showed nail and dental enamel dystrophy and angular cheilitis. She had a history of mineralocorticoid deficiency (Addison's disease), hypoparathyroidism, hypogonadism and Biermer's disease, and she had also had chronic mucocutaneous candidiasis since childhood...
December 2010: Annales de Dermatologie et de Vénéréologie
Geneviève Haag, Michel Botbol, Rozenn Graignic, Fernando Perez-Diaz, Guillaume Bronsard, Solenn Kermarrec, Marie-Christine Clement, Annick Cukierman, Catherine Druon, Andrée Duprat, Françoise Jardin, Anik Maufras du Chatellier, Jacqueline Tricaud, Simone Urwand, Jean-Marc Guilé, David Cohen, Sylvie Tordjman
The present study was designed to examine the reliability and validity of the Autism Psychodynamic Evaluation of Changes (APEC) scale, developed to assess the evolution in individuals with autism under treatment. The APEC scale focuses on the key role of impairment in body image construction, which requires cross-modal sensory integration through emotional communication with motor representations. Thus, the body image construction is associated simultaneously with spatial and temporal organization and allows the emergence of self- and others-representations...
December 2010: Journal of Physiology, Paris
Alenka Pavlic, Janna Waltimo-Sirén
OBJECTIVE: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) causes multiple endocrine deficiencies, oral candidiasis and different forms of ectodermal dystrophy including enamel hypoplasia, documented in permanent teeth. Our purpose was to examine dental aberrations associated with APECED, including possible manifestations in primary teeth. DESIGN: We studied clinically, radiographically, and by scanning electron microscopy (SEM) teeth of children belonging to two APECED families with different mutations in the AIRE gene...
July 2009: Archives of Oral Biology
Massimo Montalto, Ferruccio D'Onofrio, Luca Santoro, Antonella Gallo, Antonio Gasbarrini, Giovanni Gasbarrini
Autoimmune enteropathy is a rare disorder characterized by severe and protracted diarrhea, weight loss from malabsorption and immune-mediated damage to the intestinal mucosa, generally occurring in infants and young children, although some cases of adult onset have been reported in the literature. Pathogenetic mechanisms involve immunological disorders, in which the presence of antienterocyte autoantibodies, although detected since first description, seems now to be secondary. As occurs frequently in autoimmunity, subjects with autoimmune enteropathy may be affected by other autoimmune disorders, sometimes leading to particular forms, i...
2009: Scandinavian Journal of Gastroenterology
Alenka Pavlic, Janna Waltimo-Sirén
OBJECTIVE: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) causes multiple endocrine deficiencies, oral candidiasis and different forms of ectodermal dystrophy including enamel hypoplasia, documented in permanent teeth. Our purpose was to examine dental aberrations associated with APECED, including possible manifestations in primary teeth. DESIGN: We studied clinically, radiographically, and by scanning electron microscopy (SEM) teeth of children belonging to two APECED families with different mutations in the AIRE gene...
May 2009: Archives of Oral Biology
S M Collins, M Dominguez, T Ilmarinen, C Costigan, A D Irvine
BACKGROUND: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED; OMIM 240300) is a rare autosomal recessive disorder defined by a variable combination of endocrine failure, chronic mucocutaneous candidiasis (CMC), and dystrophy of the dental enamel and nails. APECED is caused by mutations in the autoimmune regulator gene (AIRE). Alopecia areata (AA) and vitiligo are diseases with autoimmune pathogeneses, and have been recognized as part of the APECED complex...
June 2006: British Journal of Dermatology
Rebecca Perry, Oufae Kecha, Jean Paquette, Celine Huot, Guy Van Vliet, Cheri Deal
Primary adrenal insufficiency (PAI) in the pediatric population (0-18 yr) is most commonly attributed to congenital adrenal hyperplasia (CAH), which occurs in about 1 in 15,000 births, followed by Addison's disease, with an assumed autoimmune etiology. However, molecular advances have increased the number of possible diagnoses. The objective of this study was to determine the incidence and etiologies of PAI in our pediatric population. All patients with a diagnosis of PAI followed by the Endocrinology Service at our institution between September 1981 and September 2001 were studied...
June 2005: Journal of Clinical Endocrinology and Metabolism
Mark Harris, Ouafae Kecha, Cheri Deal, C Rolfe Howlett, Dorothee Deiss, Vivienne Tobias, Judith Simoneau-Roy, Jan Walker
We report the association of an undescribed, reversible metaphyseal dysplasia (RMD) with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in two patients, one homozygous and one heterozygous for a 13-bp deletion in exon 8 of the autoimmune regulator (AIRE) gene. One patient also had a novel deletion in exon 6, resulting in a frameshift mutation and introduction of a STOP codon in exon 10. Their APECED phenotypes differed, but both patients developed progressive skeletal deformities and growth failure from early childhood...
October 2003: Journal of Clinical Endocrinology and Metabolism
E Warzée, J J Legros, V Geenen
As a complement to basic research, thorough clinical investigation of rare diseases may provide fundamental elements which improve our understanding of still obscure pathophysiologic mechanisms. This is the case with immunoendocrinopathy syndromes. Since Addison's pioneer observations in the 19th century, physicians have known that some individuals and their families may be affected by several spontaneous endocrine insufficiencies that are associated with autoimmune extra-endocrine processes. APS-I or APECED syndrome appears in children firstly affected by recurrent muco-cutaneous candidiasis and hypoparathyroidism, followed by adrenocortical insufficiency and by other autoimmune processes...
November 2002: Revue Médicale de Liège
R Perniola, A Falorni, M G Clemente, F Forini, E Accogli, G Lobreglio
OBJECTIVE: The aim of the study was to assess the complex of autoantibodies which can be detected in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a rare autosomal recessive disease in which the extent of autoimmunity is still unknown. DESIGN: Antibodies (A) to parathyroid glands, adrenal cortex (AC-A), ovary and testis (steroid cell antibodies, SC-A), pancreatic islet cells (IC-A), gastric parietal cells, and non-organ-specific antigens were investigated in 11 APECED patients living in the Salento region of southern Italy...
October 2000: European Journal of Endocrinology
D Coustou, B Masquelier, M E Lafon, C Labrèze, S Roul, P Bioulac-Sage, F Mégraud, H J Fleury, A Taïeb
Our objective was to study possible etiologic factors of asymmetric periflexural exanthem of childhood (APEC) among a large panel of microbiologic agents not yet investigated. To do so, we designed a prospective case-control study using throat, stool, blood, and skin samples, and enlisted 37 children with APEC and 37 age-matched controls without eruption seen consecutively from February 1995 to April 1996 from a mixed referral center and community-based population. No interventions were done. Used as the main outcome measure was the differences in the two groups for microbiologic investigations...
May 2000: Pediatric Dermatology
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