Literature DB >> 34407251

IFNγR1 deficiency presenting with visceral leishmaniasis and Mycobacterium Avium infections mimicking HLH.

Muhammad Bilal Khalid1, Sónia Gaspar Lemos2, Katherine Myint-Hpu3, Debbie Draper3, Jennifer Stoddard4, Julie E Niemela4, Sergio D Rosenzweig5, Stefania Pittaluga4, Ottavia M Delmonte3, Luigi D Notarangelo3.   

Abstract

Entities:  

Keywords:  HLH; IFNGR; interferon-gamma receptor deficiency; leishmaniasis; mycobacterial infection

Mesh：

Year:  2021        PMID： 34407251      PMCID： PMC9304970          DOI： 10.1111/pai.13653

Source DB:  PubMed          Journal:  Pediatr Allergy Immunol        ISSN： 0905-6157            Impact factor:   5.464


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  7 in total

1.  IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis.

Authors:  Stéphanie Humblet-Baron; Dean Franckaert; James Dooley; Fatima Ailal; Aziz Bousfiha; Caroline Deswarte; Carmen Oleaga-Quintas; Jean-Laurent Casanova; Jacinta Bustamante; Adrian Liston
Journal:  J Allergy Clin Immunol       Date:  2018-12-19       Impact factor: 10.793

Review 2.  The IFN gamma receptor: a paradigm for cytokine receptor signaling.

Authors:  E A Bach; M Aguet; R D Schreiber
Journal:  Annu Rev Immunol       Date:  1997       Impact factor: 28.527

Review 3.  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

4.  In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.

Authors:  E Jouanguy; S Dupuis; A Pallier; R Döffinger; M C Fondanèche; C Fieschi; S Lamhamedi-Cherradi; F Altare; J F Emile; P Lutz; P Bordigoni; H Cokugras; N Akcakaya; J Landman-Parker; J Donnadieu; Y Camcioglu; J L Casanova
Journal:  J Clin Invest       Date:  2000-05       Impact factor: 14.808

5.  Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.

Authors:  Susan E Dorman; Capucine Picard; David Lammas; Klaus Heyne; Jaap T van Dissel; Richard Baretto; Sergio D Rosenzweig; Melanie Newport; Michael Levin; Joachim Roesler; Dinakantha Kumararatne; Jean-Laurent Casanova; Steven M Holland
Journal:  Lancet       Date:  2004 Dec 11-17       Impact factor: 79.321

Review 6.  Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from the North American Consortium for Histiocytosis (NACHO).

Authors:  Michael B Jordan; Carl E Allen; Jay Greenberg; Michael Henry; Michelle L Hermiston; Ashish Kumar; Melissa Hines; Olive Eckstein; Stephan Ladisch; Kim E Nichols; Carlos Rodriguez-Galindo; Birte Wistinghausen; Kenneth L McClain
Journal:  Pediatr Blood Cancer       Date:  2019-07-24       Impact factor: 3.167

7.  Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature.

Authors:  Aidé Tamara Staines-Boone; Caroline Deswarte; Edna Venegas Montoya; Luz María Sánchez-Sánchez; Jorge Alberto García Campos; Teodoro Muñiz-Ronquillo; Jacinta Bustamante; Francisco J Espinosa-Rosales; Saul Oswaldo Lugo Reyes
Journal:  Front Pediatr       Date:  2017-05-03       Impact factor: 3.418
  7 in total
  1 in total

1.  Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.

Authors:  Boaz Palterer; Lorenzo Salvati; Manuela Capone; Valentina Mecheri; Laura Maggi; Alessio Mazzoni; Lorenzo Cosmi; Nila Volpi; Lucia Tiberi; Aldesia Provenzano; Sabrina Giglio; Paola Parronchi; Giandomenico Maggiore; Oreste Gallo; Alessandro Bartoloni; Francesco Annunziato; Lorenzo Zammarchi; Francesco Liotta
Journal:  Front Immunol       Date:  2022-04-28       Impact factor: 8.786
  1 in total

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