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

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.

Copyright © 2022 Saettini, Coliva, Vendemini, Galbiati, Bugarin, Masetti, Moratto, Chiarini, Guerra, Iascone, Badolato, Cazzaniga, Niemeyer, Flotho and Biondi.

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TitleAbnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome.
Date2022-01-01
Issue nameFrontiers in pediatrics
Issue numberv10:935951
DOI10.3389/fped.2022.935951
PubMed35967575
AuthorsSaettini F, Coliva TA, 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
KeywordsALPS, BENTA, CARD11, CBL, RALD, RASopathies, lymphocytosis, splenomegaly
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