{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T02:27:35Z","timestamp":1768530455679,"version":"3.49.0"},"reference-count":11,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,7,28]],"date-time":"2022-07-28T00:00:00Z","timestamp":1658966400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>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 <jats:italic>CBL<\/jats:italic> mutation and clinical and immune-hematological overlapping features with autoimmune lymphoproliferative syndrome (ALPS) and B-cell expansion with NF-\u03baB 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<jats:sup>+<\/jats:sup> B cells. This feature differentiates CBL syndrome from BENTA, pointing toward an abnormal proliferation of B-cell early precursors.<\/jats:p>","DOI":"10.3389\/fped.2022.935951","type":"journal-article","created":{"date-parts":[[2022,7,28]],"date-time":"2022-07-28T05:43:41Z","timestamp":1658987021000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome"],"prefix":"10.3389","volume":"10","author":[{"given":"Francesco","family":"Saettini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiziana 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proliferation.","volume":"36","author":"Tejwani","year":"2019","journal-title":"Indian J Hematol Blood Transfus."},{"key":"B11","doi-asserted-by":"publisher","first-page":"2247","DOI":"10.1084\/jem.20120831","article-title":"Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.","volume":"209","author":"Snow","year":"2012","journal-title":"J Exp Med."}],"container-title":["Frontiers in 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