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

Content Provider	frontiers
Author	Zheng, Shaoling Lee, Pui Y. Wang, Jun Wang, Shihao Huang, Qidang Huang, Yukai Liu, Yuqi Zhou, Qing Li, Tianwang
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.
ISSN	16643224
DOI	10.3389/fimmu.2020.00985
Volume Number	11
Journal	Frontiers in Immunology
Language	English
Publisher Date	2020-05-20
Access Restriction	Open
Subject Keyword	IFIH1 / MDA5 Pulmonary hypertension Interstitial Lung Disease Psoriasis Aicardi-Goutières syndrome
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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