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Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Fusaro, Mathieu; Vincent, Aline; Castelle, Martin; Rosain, Jérémie; Fournier, Benjamin; Veiga-da-Cunha, Maria; Kentache, Takfarinas; Serre, Jill; Fallet-Bianco, Catherine; Delezoide, Anne-Lise; Renesme, Laurent; Picard, Fanny Morice; Lasseaux, Eulalie; Aladjidi, Nathalie; Seta, Nathalie; Cormier-Daire, Valérie; Schaftingen, Emile van; Neven, Bénédicte; Moshous, Despina; Blesson, Sophie; Picard, Capucine.
Affiliation
  • Fusaro M; INSERM UMR1163, Imagine Institute, Université de Paris, Paris, France. mathieu.fusaro@gmail.com.
  • Vincent A; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. mathieu.fusaro@gmail.com.
  • Castelle M; Department of Genetics, University Hospital of Tours, Tours, France.
  • Rosain J; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
  • Fournier B; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Veiga-da-Cunha M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
  • Kentache T; INSERM UMR1163, Imagine Institute, Université de Paris, Paris, France.
  • Serre J; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
  • Fallet-Bianco C; Metabolic Research Group, de Duve Institute, Université Catholique de Louvain, B-1200, Brussels, Belgium.
  • Delezoide AL; Metabolic Research Group, de Duve Institute, Université Catholique de Louvain, B-1200, Brussels, Belgium.
  • Renesme L; Pediatric Onco-Hematology Unit, University Hospital of Tours, Tours, France.
  • Picard FM; Department of Pathology, CHU Sainte-Justine, Université de Montréal, Québec, Canada.
  • Lasseaux E; Department of Development Biology, Robert Debré Hospital, AP-HP, Paris, France.
  • Aladjidi N; Neonatal Intensive Care Unit, University Hospital of Bordeaux, Bordeaux, France.
  • Seta N; Department of Genetics, University Hospital of Bordeaux, Bordeaux, France.
  • Cormier-Daire V; Department of Genetics, University Hospital of Bordeaux, Bordeaux, France.
  • Schaftingen EV; Department of Pediatric Oncology and Haematology, University Hospital of Bordeaux, Bordeaux, France.
  • Neven B; Centre de Référence National des cytopénies auto-immunes de l'enfant, University Hospital of Bordeaux, Bordeaux, France.
  • Moshous D; Metabolic and Cellular Biochemistry, Bichat-Claude Bernard Hospital, AP-HP, Paris, France.
  • Blesson S; INSERM UMR1163, Imagine Institute, Université de Paris, Paris, France.
  • Picard C; Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, Necker Hospital for Sick Children, AP-HP, Paris, France.
J Clin Immunol ; 41(5): 958-966, 2021 07.
Article in En | MEDLINE | ID: mdl-33534079
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphoglucomutase / Abnormalities, Multiple / Bone Diseases, Developmental / Severe Combined Immunodeficiency / Limb Deformities, Congenital / Nervous System Diseases Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Clin Immunol Year: 2021 Type: Article Affiliation country: France
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphoglucomutase / Abnormalities, Multiple / Bone Diseases, Developmental / Severe Combined Immunodeficiency / Limb Deformities, Congenital / Nervous System Diseases Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Clin Immunol Year: 2021 Type: Article Affiliation country: France