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 lymphoproliferative syndrome (ALPS) and B-cell expansion with NF-kappa B and T-cell anergy (BENTA) syndrome. Increased immature/transitional B cells can be depicted in CBL syndrome, ALPS, and BENTA. Nonetheless, our patients here described showed peculiar B-cell phenotype due to increased immature/transitional CD34(+) B cells. This feature differentiates CBL syndrome from BENTA, pointing toward an abnormal proliferation of B-cell early precursors.

Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome / Saettini, Francesco; Coliva, Tiziana Angela; Vendemini, Francesca; Galbiati, Marta; Bugarin, Cristina; Masetti, Riccardo; Moratto, Daniele; Chiarini, Marco; Guerra, Fabiola; Iascone, Maria; Badolato, Raffaele; Cazzaniga, Giovanni; Niemeyer, Charlotte; Flotho, Christian; Biondi, Andrea. - In: FRONTIERS IN PEDIATRICS. - ISSN 2296-2360. - ELETTRONICO. - 10:(2022), pp. 935951.1-935951.3. [10.3389/fped.2022.935951]

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

Masetti, Riccardo;
2022

Abstract

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 lymphoproliferative syndrome (ALPS) and B-cell expansion with NF-kappa B and T-cell anergy (BENTA) syndrome. Increased immature/transitional B cells can be depicted in CBL syndrome, ALPS, and BENTA. Nonetheless, our patients here described showed peculiar B-cell phenotype due to increased immature/transitional CD34(+) B cells. This feature differentiates CBL syndrome from BENTA, pointing toward an abnormal proliferation of B-cell early precursors.
2022
Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome / Saettini, Francesco; Coliva, Tiziana Angela; Vendemini, Francesca; Galbiati, Marta; Bugarin, Cristina; Masetti, Riccardo; Moratto, Daniele; Chiarini, Marco; Guerra, Fabiola; Iascone, Maria; Badolato, Raffaele; Cazzaniga, Giovanni; Niemeyer, Charlotte; Flotho, Christian; Biondi, Andrea. - In: FRONTIERS IN PEDIATRICS. - ISSN 2296-2360. - ELETTRONICO. - 10:(2022), pp. 935951.1-935951.3. [10.3389/fped.2022.935951]
Saettini, Francesco; Coliva, Tiziana Angela; Vendemini, Francesca; Galbiati, Marta; Bugarin, Cristina; Masetti, Riccardo; Moratto, Daniele; Chiarini, Marco; Guerra, Fabiola; Iascone, Maria; Badolato, Raffaele; Cazzaniga, Giovanni; Niemeyer, Charlotte; Flotho, Christian; Biondi, Andrea
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/896523
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