Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome

• Main Authors: Francesco Saettini (Author), Tiziana Angela Coliva (Author), Francesca Vendemini (Author), Marta Galbiati (Author), Cristina Bugarin (Author), Riccardo Masetti (Author), Daniele Moratto (Author), Marco Chiarini (Author), Fabiola Guerra (Author), Maria Iascone (Author), Raffaele Badolato (Author), Giovanni Cazzaniga (Author), Charlotte Niemeyer (Author), Christian Flotho (Author), Andrea Biondi (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

CBL syndrome is a Noonan-like RASopathy with heterogeneous clinical phenotype and predisposition to juvenile myelomonocytic leukemia (JMML). Here we describe two patients with identical germline CBL mutation and clinical and immune-hematological overlapping features with autoimmune lymphoproliferati...