title: A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development.
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.
authors.affiliation: Department of Pediatrics, University of Rome Tor Vergata, Italy. moschese@med.uniroma2.it
authors.forename: Viviana
authors.initials: V
authors.lastname: Moschese
authors.forename: Jiri
authors.initials: J
authors.lastname: Lintzman
authors.forename: Francesco
authors.initials: F
authors.lastname: Callea
authors.forename: Loredana
authors.initials: L
authors.lastname: Chini
authors.forename: Rita
authors.initials: R
authors.lastname: Devito
authors.forename: Rita
authors.initials: R
authors.lastname: Carsetti
authors.forename: Silvia
authors.initials: S
authors.lastname: Di Cesare
authors.forename: Frédéric
authors.initials: F
authors.lastname: Geissman
authors.forename: Nicole
authors.initials: N
authors.lastname: Brousse
authors.forename: Paolo
authors.initials: P
authors.lastname: Rossi
authors.forename: Anne
authors.initials: A
authors.lastname: Durandy
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007075:Immunoglobulin M / Q000097:blood*; D008206:Lymphatic Diseases / Q000235:genetics; D016393:Lymphoma, B-Cell / Q000235:genetics*; D011628:Puberty, Delayed / Q000235:genetics*
chemical_list: D007075:Immunoglobulin M