Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

Jeremiah, Nadia; Neven, Bénédicte; Gentili, Matteo; Callebaut, Isabelle; Maschalidi, Sophia; Stolzenberg, Marie-Claude; Goudin, Nicolas; Frémond, Marie-Louis; Nitschké, Patrick; Molina, Thierry Jo; Blanche, Stéphane; Pïcard, Capucine; Rice, Gillian I.; Crow, Yanick J.; Manel, Nicolas; Fischer, Alain; Bader-Meunier, Brigitte; Rieux-Laucat, Frédéric

doi:10.1172/jci79100

Cited by 444 publications

(448 citation statements)

References 21 publications

(23 reference statements)

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“…Specific treatments aimed at targeting the specific pathway involved may have therapeutic potential [8,94,97,98]. Prevalence of the UIP pattern is low ( figure 4), but pulmonary fibrosis can be at the forefront and lead to lung transplantation or death [6,95,99,100].…”

Section: Surfactant Protein Mutationsmentioning

confidence: 99%

Management of suspected monogenic lung fibrosis in a specialised centre

et al. 2017

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At least 10% of patients with interstitial lung disease present monogenic lung fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 25% of families have an identified mutation in genes mostly involved in telomere homeostasis, and more rarely in surfactant homeostasis.Beyond pathophysiological knowledge, detection of these mutations has practical consequence for patients. For instance, mutations involved in telomere homeostasis are associated with haematological complications after lung transplantation and may require adapted immunosuppression. Moreover, relatives may benefit from a clinical and genetic evaluation that should be specifically managed.The field of genetics of pulmonary fibrosis has made great progress in the last 10 years, raising specific problems that should be addressed by a specialised team.

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Section: Surfactant Protein Mutationsmentioning

confidence: 99%

Management of suspected monogenic lung fibrosis in a specialised centre

et al. 2017

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“…Autoantibody production was common but titers were transiently positive in the sporadic patients reported by Liu Y et al [97] and thereby they were not apparently associated with disease severity. Surprisingly, a recent report contradicts the aforementioned statement and describes a familiar case of an inherited STING-activating mutation with a variable clinical symptoms of systemic inflammatory syndrome and lupuslike manifestations which in that case, the autoantibody titers correlates with a more severe disease course [96].…”

Section: Sting-associated Vasculopathy With Onset In Infancy (Savi)mentioning

confidence: 91%

From Primary Immunodeficiency to Autoimmunity: How Extreme Situations Highlight the Main Genetic Factors Involved in Autoimmune Disease

Juan¹

2016

MOJI

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“…Interferonopathies initially manifesting solely with pulmonary disease An inherited autoinflammatory syndrome with the main clinical features onset in infancy, systemic inflammation, cutaneous vasculopathy, pulmonary inflammation and caused by mutations in the transmembrane protein 173 (TMEM173) has been described [32,33] and named SAVI (stimulator of interferon genes-associated vasculopathy with onset in infancy). Of great importance is the article by PICARD et al [34], demonstrating a pulmonary-only phenotype of this syndrome manifesting during childhood.…”

Section: Dpld Group B3: Ild Related To Immune Dysregulation or Compromentioning

confidence: 99%

Chronic interstitial lung disease in children

Griese

2018

Eur Respir Rev

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Children's interstitial lung diseases (chILD) are increasingly recognised and contain many lung developmental and genetic disorders not yet identified in adult pneumology. Worldwide, several registers have been established. The Australasian Registry Network for Orphan Lung Disease (ARNOLD) has identified problems in estimating rare disease prevalence; focusing on chILD in immunocompetent patients, a period prevalence of 1.5 cases per million children and a mortality rate of 7% were determined. The chILD-EU register highlighted the workload to be covered per patient included and provided protocols for diagnosis and initial treatment, similar to the United States chILD network. Whereas case reports may be useful for young physicians to practise writing articles, cohorts of patients can catapult progress, as demonstrated by recent studies on persistent tachypnoea of infancy, hypersensitivity pneumonitis in children and interstitial lung disease related to interferonopathies from mutations in transmembrane protein 173. Translational research has linked heterozygous mutations in the ABCA3 transporter to an increased risk of interstitial lung diseases, not only in neonates, but also in older children and adults. For surfactant dysfunction disorders in infancy and early childhood, lung transplantation was reported to be as successful as in adult patients. Mutual potentiation of paediatric and adult pneumologists is mandatory in this rapidly extending field for successful future development.

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Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

Cited by 444 publications

References 21 publications

Management of suspected monogenic lung fibrosis in a specialised centre

Management of suspected monogenic lung fibrosis in a specialised centre

From Primary Immunodeficiency to Autoimmunity: How Extreme Situations Highlight the Main Genetic Factors Involved in Autoimmune Disease

Chronic interstitial lung disease in children

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