Literature DB >> 11335769

High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency.

C Fieschi1, S Dupuis, C Picard, C I Smith, S M Holland, J L Casanova.   

Abstract

We have found that children with complete interferon gamma (IFNgamma) receptor deficiency, unlike patients with other genetic defects predisposing them to mycobacterial diseases, have very high levels of IFNgamma in their plasma. This unexpected observation provides a simple and accurate diagnostic method for complete IFNgamma receptor deficiency in children with clinical disease caused by bacille Calmette-Guérin vaccines or environmental nontuberculous mycobacteria.

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Year:  2001        PMID： 11335769     DOI： 10.1542/peds.107.4.e48

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  22 in total

1.  Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant.

Authors:  Grazia Bossi; Edoardo Errichiello; Orsetta Zuffardi; Piero Marone; Vincenzina Monzillo; Daniela Barbarini; Antonio Vergori; Lorenzo Andrea Bassi; Gaetana Anna Rispoli; Mara De Amici; Marco Zecca
Journal:  J Pediatr Genet       Date:  2019-11-04

2.  Missense splice variant (g.20746A>G, p.Ile183Val) of interferon gamma receptor 1 (IFNGR1) coincidental with mycobacterial osteomyelitis - a screen of osteoarticular lesions.

Authors:  Agnieszka Bińczak-Kuleta; Aleksander Szwed; Mark R Walter; Maciej Kołban; Andrzej Ciechanowicz; Jeremy S C Clark
Journal:  Bosn J Basic Med Sci       Date:  2016-06-29       Impact factor: 3.363

3.  A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate.

Authors:  Mahsima Shabani; Soheila Aleyasin; Sara Kashef; Samaneh Zoghi; Caroline Deswarte; Jean-Laurent Casanova; Jacinta Bustamante; Nima Rezaei
Journal:  J Clin Immunol       Date:  2019-02-05       Impact factor: 8.317

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.  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 6.  Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Authors:  Jacinta Bustamante; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Semin Immunol       Date:  2014-10-26       Impact factor: 11.130

Review 7.  Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

Authors:  Ana Esteve-Solé; Ithaisa Sologuren; María Teresa Martínez-Saavedra; Àngela Deyà-Martínez; Carmen Oleaga-Quintas; Rubén Martinez-Barricarte; Andrea Martin-Nalda; Manel Juan; Jean-Laurent Casanova; Carlos Rodriguez-Gallego; Laia Alsina; Jacinta Bustamante
Journal:  Crit Rev Clin Lab Sci       Date:  2018-03-04       Impact factor: 6.250

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

Review 9.  A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.

Authors:  Un-In Wu; Steven M Holland
Journal:  Semin Immunopathol       Date:  2016-01-05       Impact factor: 9.623

10.  Interferon gamma, IL-12, IL-12R and STAT-1 immunodeficiency diseases: disorders of the interface of innate and adaptive immunity.

Authors:  Steven M Holland
Journal:  Immunol Res       Date:  2007       Impact factor: 2.829
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