Literature DB >> 25592983

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

Bianca Tesi1, Elena Sieni2, Conceição Neves3, Francesca Romano4, Valentina Cetica2, Ana Isabel Cordeiro3, Samuel Chiang5, Heinrich Schlums5, Luisa Galli6, Stefano Avenali7, Annalisa Tondo2, Clementina Canessa4, Jan-Inge Henter8, Magnus Nordenskjöld9, Amy P Hsu10, Steven M Holland10, João F Neves3, Chiara Azzari4, Yenan T Bryceson11.   

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Year:  2015        PMID: 25592983     DOI: 10.1016/j.jaci.2014.11.030

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN: 0091-6749            Impact factor:   10.793


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  34 in total

1.  A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Authors:  Carmen Oleaga-Quintas; Caroline Deswarte; Marcela Moncada-Vélez; Ayse Metin; Indumathi Krishna Rao; Saliha Kanık-Yüksek; Alejandro Nieto-Patlán; Antoine Guérin; Belgin Gülhan; Savita Murthy; Aslınur Özkaya-Parlakay; Laurent Abel; Rubén Martínez-Barricarte; Rebeca Pérez de Diego; Stéphanie Boisson-Dupuis; Xiao-Fei Kong; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  Hum Mol Genet       Date:  2018-11-15       Impact factor: 6.150

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.  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

4.  Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.

Authors:  Wenjing Ying; Danru Liu; Xiaolong Dong; Wenjie Wang; Xiaoying Hui; Jia Hou; Haili Yao; Qinhua Zhou; Bijun Sun; Jinqiao Sun; Xiaochuan Wang
Journal:  J Clin Immunol       Date:  2019-07-31       Impact factor: 8.317

Review 5.  Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.

Authors:  Peter Olbrich; Maria Teresa Martínez-Saavedra; José Maria Perez-Hurtado; Cristina Sanchez; Berta Sanchez; Caroline Deswarte; Ignacio Obando; Jean-Laurent Casanova; Carsten Speckmann; Jacinta Bustamante; Carlos Rodriguez-Gallego; Olaf Neth
Journal:  Pediatr Blood Cancer       Date:  2015-07-14       Impact factor: 3.167

6.  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

7.  ST2 contributes to T-cell hyperactivation and fatal hemophagocytic lymphohistiocytosis in mice.

Authors:  Julia E Rood; Sheila Rao; Michele Paessler; Portia A Kreiger; Niansheng Chu; Erietta Stelekati; E John Wherry; Edward M Behrens
Journal:  Blood       Date:  2015-10-30       Impact factor: 22.113

8.  Lymphocyte-independent pathways underlie the pathogenesis of murine cytomegalovirus-associated secondary haemophagocytic lymphohistiocytosis.

Authors:  E Brisse; M Imbrechts; T Mitera; J Vandenhaute; N Berghmans; L Boon; C Wouters; R Snoeck; G Andrei; P Matthys
Journal:  Clin Exp Immunol       Date:  2018-01-18       Impact factor: 4.330

9.  Hemophagocytic Lymphohistiocytosis as a Complication in Patients with MSMD.

Authors:  Rodolfo Muriel-Vizcaino; Marco Yamazaki-Nakashimada; Gabriela López-Herrera; Leopoldo Santos-Argumedo; Noé Ramírez-Alejo
Journal:  J Clin Immunol       Date:  2016-05-04       Impact factor: 8.317

Review 10.  The genetics of macrophage activation syndrome.

Authors:  Grant S Schulert; Randy Q Cron
Journal:  Genes Immun       Date:  2020-04-15       Impact factor: 2.676

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