Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 25930198.
- Also identified by DOI 10.1016/j.jaci.2015.03.008 and PMC identifier 4562870.
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Abstract
Three new BENTA patients sharing the same novel, autosomal dominant gain-of-function missense mutation in <i>CARD11</i> (C49Y) provide new insight into the progression of this disorder from childhood to adulthood.
Medical subject headings
- B-Lymphocytes
- CARD Signaling Adaptor Proteins
- Guanylate Cyclase
- Lymphocytosis
- Lymphoproliferative Disorders
- Mutation, Missense