title: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.
authors.affiliation: 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.
authors.forename: Alison Joanne
authors.initials: AJ
authors.lastname: Lee
authors.affiliation: 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.
authors.forename: Marcela
authors.initials: M
authors.lastname: Moncada-Vélez
authors.affiliation: 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.
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.affiliation: 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.
authors.forename: Genevieve
authors.initials: G
authors.lastname: Llanora
authors.affiliation: 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.
authors.forename: Chiung-Hui
authors.initials: CH
authors.lastname: Huang
authors.affiliation: 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.
authors.forename: Laurent
authors.initials: L
authors.lastname: Abel
authors.affiliation: 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.
authors.forename: Si Min
authors.initials: SM
authors.lastname: Chan
authors.affiliation: 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.
authors.forename: Bee-Wah
authors.initials: BW
authors.lastname: Lee
authors.affiliation: 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.
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.affiliation: 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.
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.affiliation: 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.
authors.forename: Lynette Pei-Chi
authors.initials: LP
authors.lastname: Shek
authors.affiliation: 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.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Boisson-Dupuis
mesh_terms: D002648:Child; D002681:China; D018450:Disease Progression; D005260:Female; D006801:Humans; D020672:I-kappa B Proteins / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D009161:Mycobacterium / Q000276:immunology*; D009164:Mycobacterium Infections / Q000175:diagnosis* / Q000235:genetics; D000072000:NF-KappaB Inhibitor alpha; D010375:Pedigree
chemical_list: D020672:I-kappa B Proteins; C000606204:NFKBIA protein, human; D000072000:NF-KappaB Inhibitor alpha