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Updated: Sep 1, 2025

Isolation of Precursor B-cell Subsets from Umbilical Cord Blood
Published on: April 16, 2013
Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome.
Francesco Saettini1, Tiziana Angela Coliva1, Francesca Vendemini1
1Department of Pediatric Hematology, Fondazione Monza e Brianza per il Bambino e la sua Mamma (MBBM), University of Milano Bicocca, Monza, Italy.
CBL syndrome, a Noonan-like RASopathy, shares features with ALPS and BENTA syndromes. Patients with identical CBL mutations showed increased immature CD34+ B cells, suggesting early B-cell precursor proliferation.
Area of Science:
- Immunology
- Genetics
- Hematology
Background:
- CBL syndrome is a RASopathy with varied clinical presentations and a risk of juvenile myelomonocytic leukemia (JMML).
- It exhibits overlapping immune-hematological features with autoimmune lymphoproliferative syndrome (ALPS) and B-cell expansion with NF-κB and T-cell anergy (BENTA) syndrome.
- Increased immature/transitional B cells are observed in CBL syndrome, ALPS, and BENTA.
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