A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development.
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.
Moschese
Viviana
V
Department of Pediatrics, University of Rome Tor Vergata, Italy. moschese@med.uniroma2.it
Lintzman
Jiri
J
Callea
Francesco
F
Chini
Loredana
L
Devito
Rita
R
Carsetti
Rita
R
Di Cesare
Silvia
S
Geissman
Frédéric
F
Brousse
Nicole
N
Rossi
Paolo
P
Durandy
Anne
A
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*
D007075:Immunoglobulin M