August 6, 2026 · Blood · DOI: 10.1182/blood.2026034942

A quantitative definition of the clinical manifestations of GATA2 deficiency in adults

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The authors aimed to quantitatively define the clinical manifestations of GATA2 deficiency in adults to aid in the curation of germline variants associated with the condition. By analyzing phenotype data from 339 individuals with GATA2 deficiency and comparing it to control data, they identified specific combinations of phenotypes that characterize the condition. This definition will help establish standardized criteria for variant curation in clinical laboratories globally.

Shruthi Mohan, Tilda E Carlelycke, Ashwin Lakshman Koppayi, Taylor Walker, Eran Tallis, Amy M Trottier, Katherine R Calvo, Beatriz E Marciano, Amy P Hsu, Steven M Holland, Dennis D Hickstein, Marcin W Wlodarski, Emilia Kozyra, Matthew Collin, Christopher N Hahn, Anna L Brown, Piers Blombery, Ing Soo Tiong, Yamuna Kankanige, Lucy C Fox, Sioban B Keel, Marshall S Horwitz, Tom J Vulliamy, Inderjeet Dokal, Daniela P Mendes-de-Almeida, Rodrigo Tocantins Calado, Marcela Cavalcante de Andrade Silva, Elvira Deolinda Rodrigues Pereira Velloso, Courtney D DiNardo, Shai Izraeli, Joanne Yacobovich, Michaela Sherbeck, Julia T Warren, Minjie Luo, William J Smith, Zachary Hattig, Ryan J Stubbins, Simone K Feurstein, Panagiotis Baliakas, Xi Luo, Amagoia Ruiz Martin, Adam Gordon, Emery H Bresnick, Guimin Gao, Masha Kocherginsky, David Wu, Lucy A Godley

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A quantitative definition of the clinical manifestations of GATA2 deficiency in adults

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