Phenotypes of somatic, monoallelic, and biallelic TET2 deficiencies
| . | Immunological phenotype . | Hematopoietic phenotype . | Other phenotypes . |
|---|---|---|---|
| Somatic | Myeloid cancer | ||
| Monoallelic | High levels of activated B cells and low levels of effector memory T cells | Lymphoid and myeloid cancer | Toxic thyroid adenoma with hyperthyroidism, testicular agenesis with hypergonadotropic hypogonadism, atherosclerosis |
| Biallelic | Viral infections (EBV, CMV, RSV), autoimmune cytopenia, high levels of DNTs, low levels of Th17 and Th1 cells, absence of Tfh cells, decreased class-switched B cells | Lymphoid cancer | Developmental delay, hypothyroidism |
| . | Immunological phenotype . | Hematopoietic phenotype . | Other phenotypes . |
|---|---|---|---|
| Somatic | Myeloid cancer | ||
| Monoallelic | High levels of activated B cells and low levels of effector memory T cells | Lymphoid and myeloid cancer | Toxic thyroid adenoma with hyperthyroidism, testicular agenesis with hypergonadotropic hypogonadism, atherosclerosis |
| Biallelic | Viral infections (EBV, CMV, RSV), autoimmune cytopenia, high levels of DNTs, low levels of Th17 and Th1 cells, absence of Tfh cells, decreased class-switched B cells | Lymphoid cancer | Developmental delay, hypothyroidism |
CMV, cytomegalovirus; DNT, double-negative T cells; RSV, respiratory syncytial virus.