| Autor: |
Francesco Saettini, Tiziana Angela Coliva, Francesca Vendemini, Marta Galbiati, Cristina Bugarin, Riccardo Masetti, Daniele Moratto, Marco Chiarini, Fabiola Guerra, Maria Iascone, Raffaele Badolato, Giovanni Cazzaniga, Charlotte Niemeyer, Christian Flotho, Andrea Biondi |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Frontiers in Pediatrics, Vol 10 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2296-2360 |
| DOI: |
10.3389/fped.2022.935951 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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