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-κB 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.

Saettini, F., Coliva, T., Vendemini, F., Galbiati, M., Bugarin, C., Masetti, R., et al. (2022). Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome. FRONTIERS IN PEDIATRICS, 10 [10.3389/fped.2022.935951].

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

Saettini, Francesco
;
Coliva, Tiziana Angela;Galbiati, Marta;Cazzaniga, Giovanni;Biondi, Andrea
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-κB 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.
Si
Articolo in rivista - Articolo scientifico
Scientifica
ALPS; BENTA; CARD11; CBL; lymphocytosis; RALD; RASopathies; splenomegaly;
English
Saettini, F., Coliva, T., Vendemini, F., Galbiati, M., Bugarin, C., Masetti, R., et al. (2022). Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome. FRONTIERS IN PEDIATRICS, 10 [10.3389/fped.2022.935951].
Saettini, F; Coliva, T; Vendemini, F; Galbiati, M; Bugarin, C; Masetti, R; Moratto, D; Chiarini, M; Guerra, F; Iascone, M; Badolato, R; Cazzaniga, G; Niemeyer, C; Flotho, C; Biondi, A
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/390946
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