455 interferon signatures (IS) from 265 patients with mutations in the isolated ISGs were analyzed. All of the genotypes were associated with upregulation of IFN signaling pathways. However, one particular genotype, RNASEH2B, stood out as 33 samples produced a normal IS. A few of the IS-negative patients were characterized by milder phenotypes compared to other patients with the same genetic mutations. 

Results of Group I

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. 


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

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. 

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