Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation
Karaca NE1, Aksu G1, Ulusoy E1, Cavusoglu C2, Oleaga-Quintas C3,4, Nieto-Patlan A3,4, Richard ME3,4, Deswarte C3,4, Casanova JL3,4,5,6,7, Bustamante J3,4,5,8*, Kutukculer N1*
1Ege University School of Medicine, Department of Pediatrics, Division of Pediatric Immunology, Izmir, Turkey
2Ege University Faculty of Medicine, Department of Microbiology, Izmir, Turkey
3Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France
4Paris Descartes University, Paris, France
5St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA
6Howard Hughes Medical Institute, New York, USA
7Pediatric Hematology-Immunology Unit, Assistance Publique-Hôpitaux de Paris AP-HP, Necker Hospital for Sick Children, Paris, France
8Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris AP-HP, Necker Hospital for Sick Children, Paris, France
* Both authors contributed equally to the manuscript.
J Investig Allergol Clin Immunol 2016; Vol 26(4)
Key words: BCG-osis, Interferon, Hyperferritinemia, NEMO mutation, Ectodermal dysplasia.