A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development.
| Authors | |
|---|---|
| Year of publication | 2006 |
| Type | Article in Periodical |
| Magazine / Source | J Pediatr |
| MU Faculty or unit | |
| Citation | |
| Field | Paediatry |
| Keywords | hyper-IgM; immunodeficiency; growth disturbance; lymphoma |
| Description | HyperIgM syndrome is a heterogenous immunodeficiency characterized by impaired class-switch recombination due to different molecular abnormalities. We report on two female patients affected by a novel syndrome associating HIGM, growth and pubertal disturbances, and severe lymphoid hyperplasia with eventual development into lymphomas, suggesting a DNA repair defect. |
| Related projects: |