PW03-033 - SLC29A3 mutation: a new autoinflammatory condition

Autor: Laurence Jonard, Karen Lambot, Pierre Quartier, Bénédicte Neven, Brigitte Bader-Meunier, Vincent Couloigner, Isabelle Melki
Přispěvatelé: Unité d'Immunologie Hématologie et Rhumatologie Pédiatrique [Necker, Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Pédiatrie Générale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Service de Radiologie Pédiatrique, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Microbiologie, Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), BMC, Ed., Unité d'Immunologie Hématologie et Rhumatologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Service de Génétique, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS )
Jazyk: angličtina
Rok vydání: 2013
Předmět:
Hypertrichosis
Pediatrics
medicine.medical_specialty
[ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/Pediatrics
Short stature
[ SDV.MHEP.RSOA ] Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system
03 medical and health sciences
[SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics
0302 clinical medicine
Germline mutation
Rheumatology
Diabetes mellitus
medicine
Immunology and Allergy
Pediatrics
Perinatology
and Child Health
030212 general & internal medicine
ComputingMilieux_MISCELLANEOUS
030203 arthritis & rheumatology
[SDV.MHEP.RSOA] Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system
[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics
business.industry
Sinus Histiocytosis with Massive Lymphadenopathy
medicine.disease
Hyperpigmentation
3. Good health
Histiocytosis
[SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system
Meeting Abstract
Pediatrics
Perinatology and Child Health
medicine.symptom
business
Uveitis
Zdroj: Pediatric Rheumatology
Pediatric Rheumatology, BioMed Central, 2013, 11 (Suppl 1), pp.A259
Pediatric Rheumatology, 2013, 11 (Suppl 1), pp.A259
Pediatric Rheumatology Online Journal
ISSN: 1546-0096
Popis: Germline mutations in SLC29A3 result in a range of clinically related, recessive syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome, Faisalabad histiocytosis (FHC), and sinus histiocytosis with massive lymphadenopathy (SHML). Main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabetes, short stature, uveitis and “Rosai-Dorfman-like” histiocytosis.
Databáze: OpenAIRE
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