The Challenge of Diagnosing SAVI: Case Studies

Pediatric Allergy, Immunology, and Pulmonology
Yao Cao, Li-Ping Jiang

Abstract

Background: Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) was first described in 2014 as a type I interferonopathy resulting from heterozygous mutations in the transmembrane protein 173 (TMEM173) gene. SAVI is characterized by the neonatal onset of systemic inflammation, severe cutaneous vasculopathy, and interstitial lung disease. Janus kinase inhibitors are considered effective therapeutics. We sought to describe 2 patients who were diagnosed with SAVI only at postmortem to increase awareness of this disorder. Methods: Clinical data were collected, and Sanger sequencing of the TMEM173 gene was performed in 2 patients suspected of SAVI. This article reviews details of these cases and lessons learned from clinical review and postmortem studies. Results: Two male children shared similar manifestations, including recurrent skin abscesses in winter, skin lesions, and recurrent respiratory tract infections, since birth. Computed tomography of the chest revealed pulmonary fibrosis, but no mutations in relevant genes (including ABCA3 and SFTPC) were discovered in patient 1 (P1). Joint pain was significant in P2 and he was diagnosed with arthritis. Antibiotic treatment yielded little ...Continue Reading

References

Dec 2, 2011·Annals of the New York Academy of Sciences·Yanick J Crow
Jul 17, 2014·The New England Journal of Medicine·Y LiuR Goldbach-Mansky
Nov 18, 2014·The Journal of Clinical Investigation·Nadia JeremiahFrédéric Rieux-Laucat
Dec 17, 2014·Arthritis & Rheumatology·Ebun OmoyinmiPaul A Brogan
Nov 1, 2015·Biochemical Society Transactions·Donatella PecaOlivier Danhaive
Nov 21, 2015·Journal of the American Academy of Dermatology·Justin ChiaEdward W Cowen
Jul 1, 2016·Pediatric Pulmonology·Melissa Kaori Silva LitaoLokesh Guglani
Aug 25, 2016·The Journal of Allergy and Clinical Immunology·Marie-Louise FrémondBénédicte Neven
Sep 30, 2016·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Hanna KimRaphaela Goldbach-Mansky
Jan 15, 2017·The Journal of Allergy and Clinical Immunology·Isabelle MelkiYanick J Crow
Sep 28, 2017·The Journal of Experimental Medicine·James D WarnerJonathan J Miner
May 31, 2018·Current Rheumatology Reports·Sophia DavidsonSeth L Masters
Jul 25, 2018·Frontiers in Immunology·Rohit G SaldanhaSeth Lucian Masters
Feb 18, 2019·The Journal of Allergy and Clinical Immunology·Hella LukschJonathan J Miner
Apr 5, 2019·Proceedings of the National Academy of Sciences of the United States of America·Mona MotwaniKatherine A Fitzgerald

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Methods Mentioned

BETA
PCR
X-ray
biopsies

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Proceedings of the National Academy of Sciences of the United States of America
Mona MotwaniKatherine A Fitzgerald
© 2021 Meta ULC. All rights reserved