EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation

J Clin Immunol. 2021 Jul;41(5):1099-1102. doi: 10.1007/s10875-021-00992-x. Epub 2021 Feb 17.

Coline Bret Puvilland¹, Bertrand Boisson^{2

3

4}, Mathieu Fusaro^{2

5}, Jacinta Bustamante^{2

3

4

5}, Yves Bertrand⁶, Antony Ceraulo^#⁶, Marie Ouachée-Chardin^#⁶

¹ Department of Hematology, Institute of Pediatric Hematology and Oncology (IHOPe), and University Claude Bernard, 1 place du Pr Joseph Renault - 69008, Lyon, France. coline.puvilland@free.fr.
² Imagine Institute, Paris University, Paris, France.
³ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
⁴ St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
⁵ Study Center for Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, Paris, EU, France.
⁶ Department of Hematology, Institute of Pediatric Hematology and Oncology (IHOPe), and University Claude Bernard, 1 place du Pr Joseph Renault - 69008, Lyon, France.

^# Contributed equally.

No abstract available

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