Phenotypes associated with the disease B-cell chronic lymphocytic leukemia (OMIM:151400):
- Typified by somatic mosaicism (HP:0001442): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: TAS. Frequency: 20/20. (OMIM:151400)
- Chronic lymphatic leukemia (HP:0005550): A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias. Evidence: IEA. (OMIM:151400)
- Cellular immunodeficiency (HP:0005374): An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. Evidence: IEA. (OMIM:151400)