Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain

J Clin Immunol. 2021 May;41(4):817-819. doi: 10.1007/s10875-020-00963-8. Epub 2021 Jan 18.

Melinda Erdős^{1

2}, Árpád Lányi³, György Balázs⁴, Jean-Laurent Casanova^{5

6

7

8}, Bertrand Boisson^{5

6}, László Maródi^{9

10}

¹ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. merdos@rockefeller.edu.
² Primary Immunodeficiency Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary. merdos@rockefeller.edu.
³ Department of Immunology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
⁴ Center for Pediatric MRI and CT, Heim Pál National Institute of Pediatrics, Budapest, Hungary.
⁵ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
⁶ Imagine Institute, Paris University, Paris, France.
⁷ Howard Hughes Medical Institute, New York, NY, USA.
⁸ Pediatric Hematology-Immunology and Rheumatology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.
⁹ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. lmarodi@rockefeller.edu.
¹⁰ Primary Immunodeficiency Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary. lmarodi@rockefeller.edu.

No abstract available

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