1.
J Pediatr
; 148(3): 404-6, 2006 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16615979
RESUMO
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.