30 IS from 17 mutation-positive patients were analyzed. The 5 affected genes, CECR1; RNASET2; PRKDC; TRNT1; and DNASE1L3 produced positive ISs in at least one patient from each of at least two different families. 

Tulane University

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

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

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.

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