A Novel Monoallelic Small Deletion Confers Gain-of-Function of STAT1 in a Child with Candidiasis and Mycobacterial Diseases

We would like to thank FUMENI A.C. for the support provided for the professional writing services in this project.

STAT1 Consortium Authors

Miyuki Tsumura1, Uriel Pérez Blanco2, Carlos, Sanchez-Flores2, Sara Espinosa Padilla2, Jacinta Bustamante3,4,5,6

Consortium Affiliations

1Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.

2Laboratory of Immune Deficiencies, National Institute of Pediatrics Mexico City, Mexico.

3Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Hospital for Sick Children, Paris, France.

4Paris Cité University, Imagine Institute, Paris, France.

5Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, France.

6St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA

Jacinta Bustante 0000-0002-3439-2482

Carlos Sanchez Flores 0009-0007-6263-442X

Uriel Pérez Blanco 0009-0000-2156-2166

Sara Espinosa Padilla 0000-0003-4859-3151

Lizbeth Blancas-Galicia 

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