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An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome

BACKGROUND: Systemic juvenile idiopathic arthritis (sJIA) is an inflammatory condition that presents with fever, rash and arthritis. At onset systemic features are predominant and the diagnosis may be a challenge. Secondary hemophagocytic lymphohistiocytosis (sHLH) forms may be associated with diffe...

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Autores principales: Arduini, Alessia, Marasco, Emiliano, Marucci, Giulia, Pardeo, Manuela, Insalaco, Antonella, Caiello, Ivan, Moneta, Gian Marco, Prencipe, Giusi, De Benedetti, Fabrizio, Bracaglia, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6532153/
https://www.ncbi.nlm.nih.gov/pubmed/31118063
http://dx.doi.org/10.1186/s12969-019-0328-3
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author Arduini, Alessia
Marasco, Emiliano
Marucci, Giulia
Pardeo, Manuela
Insalaco, Antonella
Caiello, Ivan
Moneta, Gian Marco
Prencipe, Giusi
De Benedetti, Fabrizio
Bracaglia, Claudia
author_facet Arduini, Alessia
Marasco, Emiliano
Marucci, Giulia
Pardeo, Manuela
Insalaco, Antonella
Caiello, Ivan
Moneta, Gian Marco
Prencipe, Giusi
De Benedetti, Fabrizio
Bracaglia, Claudia
author_sort Arduini, Alessia
collection PubMed
description BACKGROUND: Systemic juvenile idiopathic arthritis (sJIA) is an inflammatory condition that presents with fever, rash and arthritis. At onset systemic features are predominant and the diagnosis may be a challenge. Secondary hemophagocytic lymphohistiocytosis (sHLH) forms may be associated with different disorders, including rheumatic diseases, and this form is called macrophage activation syndrome (MAS). CXCL9 levels, a chemokine induced by IFNγ, are significantly elevated in patients with sHLH or MAS and are correlated with laboratory features of disease activity. High levels of IL-18 have been reported in patients with MAS during sJIA, as well as in some patients with sHLH and IL-18 is indeed known to induce IFNγ production. FINDINGS: We report a patient with a clinical presentation highly suggestive for systemic juvenile idiopathic arthritis (sJIA) onset complicated by MAS, and was later diagnosed with purine nucleoside phosphorylase (PNP)-deficiency with HLH. Some unusual features appeared when HLH was controlled and further investigations provided the correct diagnosis. Serum CXCL9 and IL-18 levels were found markedly elevated at disease onset, during the active phase of MAS and decreased progressively during the course. CONCLUSION: The reported case underlines the potential difficulties in discriminating sJIA from other causes of systemic inflammation. Furthermore, this supports the notion that especially in young children with a sJIA-like disease other mimicking conditions should be actively sought for. CXCL9 and IL-18 levels suggested that patients with PNP-deficiency may have a subclinical activation of the IFNγ pathway and indeed they are predisposed to develop sHLH.
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spelling pubmed-65321532019-05-28 An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome Arduini, Alessia Marasco, Emiliano Marucci, Giulia Pardeo, Manuela Insalaco, Antonella Caiello, Ivan Moneta, Gian Marco Prencipe, Giusi De Benedetti, Fabrizio Bracaglia, Claudia Pediatr Rheumatol Online J Short Report BACKGROUND: Systemic juvenile idiopathic arthritis (sJIA) is an inflammatory condition that presents with fever, rash and arthritis. At onset systemic features are predominant and the diagnosis may be a challenge. Secondary hemophagocytic lymphohistiocytosis (sHLH) forms may be associated with different disorders, including rheumatic diseases, and this form is called macrophage activation syndrome (MAS). CXCL9 levels, a chemokine induced by IFNγ, are significantly elevated in patients with sHLH or MAS and are correlated with laboratory features of disease activity. High levels of IL-18 have been reported in patients with MAS during sJIA, as well as in some patients with sHLH and IL-18 is indeed known to induce IFNγ production. FINDINGS: We report a patient with a clinical presentation highly suggestive for systemic juvenile idiopathic arthritis (sJIA) onset complicated by MAS, and was later diagnosed with purine nucleoside phosphorylase (PNP)-deficiency with HLH. Some unusual features appeared when HLH was controlled and further investigations provided the correct diagnosis. Serum CXCL9 and IL-18 levels were found markedly elevated at disease onset, during the active phase of MAS and decreased progressively during the course. CONCLUSION: The reported case underlines the potential difficulties in discriminating sJIA from other causes of systemic inflammation. Furthermore, this supports the notion that especially in young children with a sJIA-like disease other mimicking conditions should be actively sought for. CXCL9 and IL-18 levels suggested that patients with PNP-deficiency may have a subclinical activation of the IFNγ pathway and indeed they are predisposed to develop sHLH. BioMed Central 2019-05-22 /pmc/articles/PMC6532153/ /pubmed/31118063 http://dx.doi.org/10.1186/s12969-019-0328-3 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Short Report
Arduini, Alessia
Marasco, Emiliano
Marucci, Giulia
Pardeo, Manuela
Insalaco, Antonella
Caiello, Ivan
Moneta, Gian Marco
Prencipe, Giusi
De Benedetti, Fabrizio
Bracaglia, Claudia
An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome
title An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome
title_full An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome
title_fullStr An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome
title_full_unstemmed An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome
title_short An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome
title_sort unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome
topic Short Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6532153/
https://www.ncbi.nlm.nih.gov/pubmed/31118063
http://dx.doi.org/10.1186/s12969-019-0328-3
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