A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development.
case_report · Level V
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Abstract
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.
Medical subject headings
- Growth Disorders
- Hypergammaglobulinemia
- Immunoglobulin M
- Lymphoma, B-Cell
- Puberty, Delayed