Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.

doi:10.1038/s41431-025-01877-y

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Article

Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.

European journal of human genetics : EJHG - 1 Sept 2025

Leardini Davide, Flex Elisabetta, Stieglitz Elliot, Cerasi Sara, Bertuccio Salvatore Nicola, Baccelli Francesco, Kállay Krisztián, Kjollerstrom Paula, Batalha Sara, Carpentieri Giovanna, Pedace Lucia, Ciolfi Andrea, Hammad Mahmoud, Miranda Maria, Rojas Marta, Rao Anupama, Innes Andrew J, Rudelius Martina, Santini Valeria, Raddi Marco, Teh Kok-Hoi, De Vito Rita, Yoshimi Ayami, Tartaglia Marco, Locatelli Franco, Niemeyer Charlotte M, Masetti Riccardo

Abstract excerpt

Known genetic disorders, such as Noonan syndrome and Down syndrome, can present in the neonatal period or early infancy with myeloproliferative disease (MPD) or abnormal myelopoiesis, which often self-resolves. This phenomenon results from an imbalance in differentiation and cell regulation caused by the genetic condition during perinatal hematopoiesis. Recently, SH2B3 variants have also been associated with...

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PMID: 40481232
DOI: 10.1038/s41431-025-01877-y
PMCID: PMC12402439

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SH2B3

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