Literature DB >> 15870678

Genetic syndromes mimic congenital infections.

A Sanchis1, L Cerveró, A Bataller, J L Tortajada, J Huguet, Y J Crow, M Ali, L J Higuet, M L Martínez-Frías.   

Abstract

Genetic syndromes that mimic congenital infection are important to recognize because of the associated risk of recurrence. We describe two brothers born to consanguineous parents with clinical features suggestive of intrauterine infection but with negative serologic investigations. Our observations suggest that Aicardi-Goutieres syndrome (AGS) and pseudo-TORCH syndrome likely represent the same disorder.

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Year:  2005        PMID: 15870678     DOI: 10.1016/j.jpeds.2005.01.033

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  16 in total

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Review 2.  The Spectrum of Developmental Disability with Zika Exposure: What Is Known, What Is Unknown, and Implications for Clinicians.

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Review 3.  Aicardi-Goutières syndrome and the type I interferonopathies.

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Journal:  Nat Rev Immunol       Date:  2015-06-05       Impact factor: 53.106

4.  Aicardi-Goutières syndrome with emphasis on sonographic features in infancy.

Authors:  L Rossler; C Ludwig-Seibold; Ch Thiels; J Schaper
Journal:  Pediatr Radiol       Date:  2012-05-26

Review 5.  Protective and Pathogenic Effects of Interferon Signaling During Pregnancy.

Authors:  Rebecca L Casazza; Helen M Lazear; Jonathan J Miner
Journal:  Viral Immunol       Date:  2019-09-23       Impact factor: 2.257

Review 6.  New roles for the major human 3'-5' exonuclease TREX1 in human disease.

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Review 7.  Lymphocytic choriomeningitis virus: an underrecognized cause of neurologic disease in the fetus, child, and adult.

Authors:  Daniel J Bonthius
Journal:  Semin Pediatr Neurol       Date:  2012-09       Impact factor: 1.636

Review 8.  Cytosolic sensing of immuno-stimulatory DNA, the enemy within.

Authors:  Rekha Dhanwani; Mariko Takahashi; Sonia Sharma
Journal:  Curr Opin Immunol       Date:  2017-12-13       Impact factor: 7.486

9.  Trex1 prevents cell-intrinsic initiation of autoimmunity.

Authors:  Daniel B Stetson; Joan S Ko; Thierry Heidmann; Ruslan Medzhitov
Journal:  Cell       Date:  2008-08-22       Impact factor: 41.582

Review 10.  Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

Authors:  Yanick J Crow; Jan Rehwinkel
Journal:  Hum Mol Genet       Date:  2009-10-15       Impact factor: 6.150

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