Interstitial Lung Disease and Psoriasis in a Child With Aicardi-Goutières Syndrome.

Frontiers in Immunology
Shaoling ZhengTianwang Li

Abstract

Aicardi-Goutières syndrome (AGS) is characterized by progressive neurologic decline, cerebral calcification, and variable manifestations of autoimmunity. Seven subtypes of AGS have been defined and aberrant activation of the type I interferon system is a common theme among these conditions. We describe a 13-year-old boy who presented with an unusual constellation of psoriasis, interstitial lung disease (ILD), and pulmonary hypertension in addition to cerebral calcifications and glomerulonephritis. He was found to have late-onset AGS due to a gain-of-function mutation in IFIH1 and over-activation of the type I interferon pathway was confirmed by RNA sequencing. The majority of his clinical manifestations, including ILD, psoriasis and renal disease improved markedly after treatment with the combination of corticosteroids, cyclophosphamide, and the Janus-kinase inhibitor tofacitinib. This case extends the clinical spectrum of AGS and suggests the need for lung disease screening in patients with AGS.

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Citations

Jan 24, 2021·Pediatric Rheumatology Online Journal·Tingyan HeJun Yang
Feb 4, 2021·Journal of Clinical Immunology·Marie-Louise Frémond, Yanick J Crow
Apr 20, 2021·Frontiers in Pediatrics·Debora M d'AngeloFrancesco Chiarelli
Apr 20, 2021·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Paride FenaroliAugusto Vaglio
Jul 3, 2021·International Journal of Molecular Sciences·Giulia Di DonatoFrancesco Chiarelli
Jul 1, 2021·American Journal of Medical Genetics. Part a·Meiping LuLixia Zou
Oct 5, 2021·Frontiers in Immunology·Jérôme HadjadjBénédicte Neven
Nov 14, 2021·The Journal of Immunology : Official Journal of the American Association of Immunologists·Maal InoueYukio Kawahara

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Methods Mentioned

BETA
biopsy
Electron microscopy
exome sequencing

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