Article
Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.
Human molecular genetics - 15 Apr 2011
Sologuren Ithaisa, Boisson-Dupuis Stéphanie, Pestano Jose, Vincent Quentin Benoit, Fernández-Pérez Leandro, Chapgier Ariane, Cárdenes María, Feinberg Jacqueline, García-Laorden M Isabel, Picard Capucine, Santiago Esther, Kong Xiaofei, Jannière Lucile, Colino Elena, Herrera-Ramos Estefanía, Francés Adela, Navarrete Carmen, Blanche Stéphane, Faria Emilia, Remiszewski Pawel, Cordeiro Ana, Freeman Alexandra, Holland Steven, Abarca Katia, Valerón-Lemaur Mónica, Gonçalo-Marques José, Silveira Luisa, García-Castellano José Manuel, Caminero José, Pérez-Arellano José Luis, Bustamante Jacinta, Abel Laurent, Casanova Jean-Laurent, Rodríguez-Gallego Carlos
Abstract excerpt
We report a series of 14 patients from 11 kindreds with recessive partial (RP)-interferon (IFN)-γR1 deficiency. The I87T mutation was found in nine homozygous patients from Chile, Portugal and Poland, and the V63G mutation was found in five homozygous patients from the Canary Islands. Founder effects accounted for the recurrence of both mutations. The most recent common ancestors of the patients with the I87T and...
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