340 IS were measured from 207 patients with undiagnosed mutated genotypes. However, the data implied upregulation of IFN signaling in a large proportion of patients with juvenile systemic lupus erythematosus (JSLE) and juvenile dermatomyositis (JDM). Alternatively, a lower percentage of patients with autoinflammatory phenotypes (without a molecularly determined mutated genotype) presented a positive IS. 

Results of Group III

Patients in group III included those diagnosed with juvenile SLE; juvenile DM; systemic juvenile idiopathic arthritis (sJIA) and non-systemic JIA; autoinflammatory disorders with no molecularly determined diagnosis; and patients with neurological, dermatological and rheumatological symptoms consistent with type I interferonopathies. 

Tulane University

- Group I
- Group II
- Group III
- Control Group


Sample Populations

Parham, P. (2009). Vaccination to Prevent Infectious Disease. In 1145902806 862124677 J. Foltin (Ed.), The Immune System (3rd ed., pp. 62-65). New York, New York: Garland Science, Taylor & Francis Group.

The Immune System

Rice GI, Melki I, Frémond ML, Briggs TA, Rodero MP, Kitabayashi N, Oojageer A, Bader-Meunier B, Belot A, Bodemer C, Quartier P, Crow YJ. Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease. J Clin Immunol. 2017 Feb;37(2):123-132. doi: 10.1007/s10875-016-0359-1. Epub 2016 Dec 9. PMID: 27943079; PMCID: PMC5325846.

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

Patients in group I had one or more highly expressed interferon readings and a mutation in any one of the following genes linked to upregulation of IFN. 
- TREX1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- SAMHD1
- ADAR1
- IFIH1
- ACP5
- TMEM173
- C1Q
- C2
- ISG15
- SKIV2L

Mutations in these genes are responsible for a broad range of clinical phenotypes, including neurological, rheumatological and dermatological symptoms. 


Group I 

Patients in group II included those diagnosed with monogenic or biallelic mutations other than those listed in group I and tested positive for an IS at least once. 

Group II

Group III

Control populations included a diverse population without preexisting medical conditions. Additionally, siblings and parents, with unaffected phenotypes, of patients were included as controls. 

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