Literature DB >> 9497247

A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.

F Altare, E Jouanguy, S Lamhamedi-Cherradi, M C Fondanéche, C Fizame, F Ribiérre, G Merlin, Z Dembic, R Schreiber, B Lisowska-Grospierre, A Fischer, E Seboun, J L Casanova.   

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Year:  1998        PMID： 9497247      PMCID： PMC1376945          DOI： 10.1086/301750

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  29 in total

1.  Association of Interferon-γ Receptor-1 Gene Polymorphism with Nontuberculous Mycobacterial Lung Infection among Iranian Patients with Pulmonary Disease.

Authors:  Poopak Farnia; Jalaledin Ghanavi; Shima Saif; Parissa Farnia; Ali Akbar Velayati
Journal:  Am J Trop Med Hyg       Date:  2017-07       Impact factor: 2.345

2.  A novel internalization motif regulates human IFN-γ R1 endocytosis.

Authors:  Judith Yancoski; Mohammed A Sadat; Nadia Aksentijevich; Andrea Bernasconi; Steven M Holland; Sergio D Rosenzweig
Journal:  J Leukoc Biol       Date:  2012-05-17       Impact factor: 4.962

3.  Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

Authors:  Capucine Picard; Claire Fieschi; Frédéric Altare; Suliman Al-Jumaah; Sami Al-Hajjar; Jacqueline Feinberg; Stéphanie Dupuis; Claire Soudais; Ibrahim Zaid Al-Mohsen; Emmanuelle Génin; David Lammas; Dinakantha S Kumararatne; Tony Leclerc; Arash Rafii; Husn Frayha; Belinda Murugasu; Lee Bee Wah; Raja Sinniah; Michael Loubser; Emi Okamoto; Abdulaziz Al-Ghonaium; Haysam Tufenkeji; Laurent Abel; Jean-Laurent Casanova
Journal:  Am J Hum Genet       Date:  2001-12-17       Impact factor: 11.025

4.  Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children.

Authors:  Philip M D Wood; Claire Fieschi; Capucine Picard; Tom H M Ottenhoff; Jean-Laurent Casanova; Dinakantha S Kumararatne
Journal:  Eur J Pediatr       Date:  2005-08-23       Impact factor: 3.183

5.  Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-gamma receptor gene.

Authors:  A J Dessein; D Hillaire; N E Elwali; S Marquet; Q Mohamed-Ali; A Mirghani; S Henri; A A Abdelhameed; O K Saeed; M M Magzoub; L Abel
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

6.  Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

Authors:  Ithaisa Sologuren; Stéphanie Boisson-Dupuis; Jose Pestano; Quentin Benoit Vincent; Leandro Fernández-Pérez; Ariane Chapgier; María Cárdenes; Jacqueline Feinberg; M Isabel García-Laorden; Capucine Picard; Esther Santiago; Xiaofei Kong; Lucile Jannière; Elena Colino; Estefanía Herrera-Ramos; Adela Francés; Carmen Navarrete; Stéphane Blanche; Emilia Faria; Pawel Remiszewski; Ana Cordeiro; Alexandra Freeman; Steven Holland; Katia Abarca; Mónica Valerón-Lemaur; José Gonçalo-Marques; Luisa Silveira; José Manuel García-Castellano; José Caminero; José Luis Pérez-Arellano; Jacinta Bustamante; Laurent Abel; Jean-Laurent Casanova; Carlos Rodríguez-Gallego
Journal:  Hum Mol Genet       Date:  2011-01-25       Impact factor: 6.150

Review 7.  Infections in patients with inherited defects in phagocytic function.

Authors:  Timothy Andrews; Kathleen E Sullivan
Journal:  Clin Microbiol Rev       Date:  2003-10       Impact factor: 26.132

8.  A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.

Authors:  Xiao-Fei Kong; Guillaume Vogt; Ariane Chapgier; Christophe Lamaze; Jacinta Bustamante; Carolina Prando; Anny Fortin; Anne Puel; Jacqueline Feinberg; Xin-Xin Zhang; Pauline Gonnord; Ulla M Pihkala-Saarinen; Mikko Arola; Petra Moilanen; Laurent Abel; Matti Korppi; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova
Journal:  Hum Mol Genet       Date:  2009-10-31       Impact factor: 6.150

9.  Functional analysis of a promoter variant of the gene encoding the interferon-gamma receptor chain I.

Authors:  Simone Jüliger; Martina Bongartz; Adrian J F Luty; Peter G Kremsner; Jürgen F J Kun
Journal:  Immunogenetics       Date:  2002-12-14       Impact factor: 2.846

10.  Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea.

Authors:  Seong-Beom Lee; Byoung Chul Kim; Song Hou Jin; Yong-Gyu Park; Se-Kon Kim; Tae-Jin Kang; Gue-Tae Chae
Journal:  Immunogenetics       Date:  2003-05-13       Impact factor: 2.846
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