Literature DB >> 26173802

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.

Peter Olbrich1, Maria Teresa Martínez-Saavedra2, José Maria Perez-Hurtado3, Cristina Sanchez1, Berta Sanchez4, Caroline Deswarte5,6, Ignacio Obando1, Jean-Laurent Casanova5,6,7,8,9, Carsten Speckmann10,11, Jacinta Bustamante5,6,8,12, Carlos Rodriguez-Gallego2,13, Olaf Neth1.   

Abstract

Autosomal recessive (AR) complete Interferon-γ Receptor1 (IFN-γR1) deficiency is a rare variant of Mendelian susceptibility to mycobacterial disease (MSMD). Although hematopoietic stem cell transplantation (HSCT) remains the only curative treatment, outcomes are heterogeneous; delayed engraftment and/or graft rejection being commonly observed. This case report and literature review expands the knowledge about this rare but potentially fatal pathology, providing details regarding diagnosis, antimicrobial treatment, transplant performance, and outcome that may help to guide physicians caring for patients with AR complete IFN-γR1 or IFN-γR2 deficiency.
© 2015 Wiley Periodicals, Inc.

Entities:  

Keywords:  atypical mycobacteria; infant; interferon gamma receptor; primary immunodeficiency; transplantation

Mesh：

Substances：

Year:  2015        PMID： 26173802      PMCID： PMC4651008          DOI： 10.1002/pbc.25625

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


  19 in total

1.  Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.

Authors:  Bianca Tesi; Elena Sieni; Conceição Neves; Francesca Romano; Valentina Cetica; Ana Isabel Cordeiro; Samuel Chiang; Heinrich Schlums; Luisa Galli; Stefano Avenali; Annalisa Tondo; Clementina Canessa; Jan-Inge Henter; Magnus Nordenskjöld; Amy P Hsu; Steven M Holland; João F Neves; Chiara Azzari; Yenan T Bryceson
Journal:  J Allergy Clin Immunol       Date:  2015-01-13       Impact factor: 10.793

2.  B-cell lymphoma in a patient with complete interferon gamma receptor 1 deficiency.

Authors:  Hannelore I Bax; Alexandra F Freeman; Victoria L Anderson; Per Vesterhus; Dan Laerum; Stefania Pittaluga; Wyndham H Wilson; Steven M Holland
Journal:  J Clin Immunol       Date:  2013-06-26       Impact factor: 8.317

3.  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 4.  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

5.  Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency.

Authors:  Petra Moilanen; Matti Korppi; Liisa Hovi; Ariane Chapgier; Jacqueline Feinberg; Xiao-Fei Kong; Stéphanie Boisson-Dupuis; Mikko Arola; Jean-Laurent Casanova; Ulla M Saarinen-Pihkala
Journal:  Pediatr Infect Dis J       Date:  2009-07       Impact factor: 2.129

Review 6.  Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review.

Authors:  L Taramasso; S Boisson-Dupuis; M L Garrè; E Bondi; A Cama; P Nozza; G Morana; J L Casanova; M G Marazzi
Journal:  J Clin Immunol       Date:  2014-09-14       Impact factor: 8.317

7.  Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation.

Authors:  Ursula Reuter; Joachim Roesler; Christian Thiede; Ansgar Schulz; Carl Friedrich Classen; Uta Oelschlagel; Klaus-Michael Debatin; Wilhelm Friedrich
Journal:  Blood       Date:  2002-08-08       Impact factor: 22.113

8.  Graft-versus-host disease causes failure of donor hematopoiesis and lymphopoiesis in interferon-gamma receptor-deficient hosts.

Authors:  Jean-Sébastien Delisle; Louis Gaboury; Marie-Pier Bélanger; Eliane Tassé; Hideo Yagita; Claude Perreault
Journal:  Blood       Date:  2008-06-13       Impact factor: 22.113

9.  Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-gamma receptor-1 deficiency.

Authors:  Mitchell E Horwitz; Gulbu Uzel; Gilda F Linton; Judi A Miller; Margaret R Brown; Harry L Malech; Steven M Holland
Journal:  Blood       Date:  2003-06-12       Impact factor: 22.113

10.  IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts.

Authors:  Martin Rottman; Claire Soudais; Guillaume Vogt; Laurent Renia; Jean-François Emile; Hélène Decaluwe; Jean-Louis Gaillard; Jean-Laurent Casanova
Journal:  PLoS Med       Date:  2008-01-29       Impact factor: 11.069
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  12 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

Review 2.  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

3.  Frequency of Mycobacterium bovis and mycobacteria in primary immunodeficiencies.

Authors:  Ezgi Ulusoy; Neslihan Edeer Karaca; Güzide Aksu; Cengiz Çavuşoğlu; Necil Kütükçüler
Journal:  Turk Pediatri Ars       Date:  2017-09-01

4.  TCR independent suppression of CD8(+) T cell cytokine production mediated by IFNγ in vivo.

Authors:  Martin P Hosking; Claudia T Flynn; J Lindsay Whitton
Journal:  Virology       Date:  2016-08-24       Impact factor: 3.616

Review 5.  Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.

Authors:  Alexandra F Freeman
Journal:  J Pediatric Infect Dis Soc       Date:  2018-12-26       Impact factor: 3.164

Review 6.  Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Authors:  Jérémie Rosain; Xiao-Fei Kong; Ruben Martinez-Barricarte; Carmen Oleaga-Quintas; Noé Ramirez-Alejo; Janet Markle; Satoshi Okada; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  Immunol Cell Biol       Date:  2018-10-25       Impact factor: 5.126

7.  Novel Mutation of Interferon-γ Receptor 1 Gene Presenting as Early Life Mycobacterial Bronchial Disease.

Authors:  Maria J Gutierrez; Neelu Kalra; Alexandra Horwitz; Gustavo Nino
Journal:  J Investig Med High Impact Case Rep       Date:  2016-11-08

Review 8.  B Regulatory Cells: Players in Pregnancy and Early Life.

Authors:  Ana Esteve-Solé; Yiyi Luo; Alexandru Vlagea; Ángela Deyà-Martínez; Jordi Yagüe; Ana María Plaza-Martín; Manel Juan; Laia Alsina
Journal:  Int J Mol Sci       Date:  2018-07-19       Impact factor: 5.923

9.  Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.

Authors:  Inge C de Vor; Pomme M van der Meulen; Vincent Bekker; Els M Verhard; Martijn H Breuning; Esther Harnisch; Maarten J D van Tol; Jantien W Wieringa; Esther van de Vosse; Robbert G M Bredius
Journal:  J Clin Immunol       Date:  2016-03-01       Impact factor: 8.317

10.  Impaired IFNγ-Signaling and Mycobacterial Clearance in IFNγR1-Deficient Human iPSC-Derived Macrophages.

Authors:  Anna-Lena Neehus; Jenny Lam; Kathrin Haake; Sylvia Merkert; Nico Schmidt; Adele Mucci; Mania Ackermann; Madline Schubert; Christine Happle; Mark Philipp Kühnel; Patrick Blank; Friederike Philipp; Ralph Goethe; Danny Jonigk; Ulrich Martin; Ulrich Kalinke; Ulrich Baumann; Axel Schambach; Joachim Roesler; Nico Lachmann
Journal:  Stem Cell Reports       Date:  2017-12-14       Impact factor: 7.765
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