Blood advances
Clinical Characteristics, Management, and Hematopoietic Cell Transplantation of Patients with TLR8 Gain-of-Function.
Danielle E Arnold, Saara Kaviany, Jahnavi Aluri, Katherine R Calvo, Sarah S Mehta, Joshua M Tobin, Laura Schuettpelz, Nermina Saucier, Elizabeth G Schmitz, Luis Murguía-Favela, Nicola A M Wright, Suk See De Ravin, V Koneti Rao, Steven M Holland, Jack Bleesing
Published: 202510.1182/bloodadvances.2025016338
Abstract
TLR8 gain-of-function (GOF) somatic variants were recently identified as causing severe neutropenia, lymphoproliferation, and immune dysregulation. We report the expanded clinical and laboratory phenotype and management of 10 patients, including the…
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