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

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. 

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. 

Control Groups

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


Tulane University

Patients with previously diagnosed monogenic inflammatory diseases and non-immunologically determined phenotypes that were associated with type I IFN signaling were tested. Controls were selected from a diverse group without preexisting medical conditions. Samples from parents and siblings of patients with autosomal dominant interferonopathies who were themselves negative for the mutation were collected. 

Methodology of Crowe Article

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

Sample Populations

Once experimental data is collected across different groups, it undergoes statistical analysis. This crucial process determines if the observed outcome differences between the testing conditions are meaningful, systematic, and genuinely related to the independent variable rather than being due to random chance.

Statistical Analysis

A majority of patients in groups II and III were receiving immunosuppression therapy. However, most patients with diagnoses of JSLE and JDM presented with persistent upregulation of interferon signaling regardless of the immunosuppressive treatment. Certain patients with sJIA did present with upregulated ISG expression even with IL1 blockers. Additionally, the interferon score should not be mistaken for other sensitive assays that can identify the disease-inducing molecule. The IS relates to the expression of ISGs and can be used, in conjunction with other technology, to describe the relationship between the inducing signal and the subsequent response. 

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