Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.

Autor: Lee AJ; Division of Allergy and Immunology, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute (KTP-NUCMI), National University Hospital, 1E Kent Ridge Road, NUHS Tower Block Level 12, Singapore, 119228, Singapore. alison_joanne_lee@nuhs.edu.sg., Moncada-Vélez M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, 1230 York Avenue, New York, NY, 10065, USA.; Group of Primary Immunodeficiencies, Institute of Biology, University of Antioquia UdeA, Calle 70 No. 52-21, Medellín, Colombia., Picard C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, INSERM, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, France., Llanora G; Division of Allergy and Immunology, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute (KTP-NUCMI), National University Hospital, 1E Kent Ridge Road, NUHS Tower Block Level 12, Singapore, 119228, Singapore., Huang CH; Division of Allergy and Immunology, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute (KTP-NUCMI), National University Hospital, 1E Kent Ridge Road, NUHS Tower Block Level 12, Singapore, 119228, Singapore., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, INSERM, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France., Chan SM; Division of Infectious Disease, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute (KTP-NUCMI), National University Hospital, Singapore, Singapore.; Department of Pediatrics, National University of Singapore, Singapore, Singapore., Lee BW; Division of Allergy and Immunology, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute (KTP-NUCMI), National University Hospital, 1E Kent Ridge Road, NUHS Tower Block Level 12, Singapore, 119228, Singapore.; Department of Pediatrics, National University of Singapore, Singapore, Singapore., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, 1230 York Avenue, New York, NY, 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, INSERM, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA., Bustamante J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, 1230 York Avenue, New York, NY, 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, INSERM, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, France., Shek LP; Division of Allergy and Immunology, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute (KTP-NUCMI), National University Hospital, 1E Kent Ridge Road, NUHS Tower Block Level 12, Singapore, 119228, Singapore.; Department of Pediatrics, National University of Singapore, Singapore, Singapore., Boisson-Dupuis S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, 1230 York Avenue, New York, NY, 10065, USA. stbo603@rockefeller.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, INSERM, Paris, France. stbo603@rockefeller.edu.
Jazyk: angličtina
Zdroj: Journal of clinical immunology [J Clin Immunol] 2016 Jan; Vol. 36 (1), pp. 12-5. Date of Electronic Publication: 2015 Dec 21.
DOI: 10.1007/s10875-015-0223-8
Databáze: MEDLINE