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Article

Transient immune deficiency accompanied with homozygous CBL rare variant.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2023

Morishita Aoi, Yeh Tzu-Wen, Tomari Kouki, Furuichi Mihoko, Kashimada Kenichi, Morio Tomohiro, Takagi Masatoshi, Imai Kohsuke

Abstract excerpt

BACKGROUND: A critical role in cellular proliferation is played by Casitas B-lineage Lymphoma proto-oncogene (CBL). Germline heterozygous CBL variants give rise to CBL syndrome, which is phenotypically similar to RASopathy. Somatic mutations in CBL have been reported in patients with juvenile myelomonocytic leukemia (JMML). METHODS: Exome analysis was performed in a patient with immunodeficiency who developed...

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PMID: 36495474
DOI: 10.1111/ped.15439

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