Andrea Gazzin, Francesca Pala, Marita Bosticardo, Julie Niemela, Jennifer Stoddard, Eleonora Biasin, Paola Quarello, Diana Carli, Francesca Ferroni, Ottavia M Delmonte, Davide Montin, Sergio D Rosenzweig, Francesco Licciardi, Luigi D Notarangelo
INTRODUCTION: Mulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an increased risk of Wilms' tumor. Although immune system impairment has been documented in MUL, the underlying mechanisms remain poorly understood. METHODS: We present a case of MUL with progressive lymphopenia and review similar cases from the literature. RESULTS: Our patient presented with prenatal onset growth restriction, characteristic dysmorphic features, and Wilms' tumor...
2023: Frontiers in Immunology