A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development.

Moschese, Viviana; Lintzman, Jiri; Callea, Francesco; Chini, Loredana; Devito, Rita; Carsetti, Rita; Di Cesare, Silvia; Geissman, Frédéric et al. · J Pediatr · 2006

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.

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