Literature DB >> 16227044

Autoimmune thyroiditis in 18q deletion syndrome.

Jefferson P Lomenick1, W Jackson Smith, Susan R Rose.   

Abstract

Deletion of a segment of the long arm of chromosome 18 causes characteristic physical features and mental retardation. Autoimmune disorders have been described with this syndrome in a limited number of reports. We describe 2 cases of autoimmune hypothyroidism in children with 18q deletion syndrome.

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Year:  2005        PMID: 16227044     DOI: 10.1016/j.jpeds.2005.04.064

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


  4 in total

1.  Hypothyroidism and levothyroxine-responsive liver dysfunction in a patient with ring chromosome 18 syndrome.

Authors:  Kazuhiro Ohkubo; Kenji Ihara; Shouichi Ohga; Masataka Ishimura; Toshiro Hara
Journal:  Thyroid       Date:  2012-09-04       Impact factor: 6.568

Review 2.  Hashimoto's Thyroiditis and Graves' Disease in Genetic Syndromes in Pediatric Age.

Authors:  Celeste Casto; Giorgia Pepe; Alessandra Li Pomi; Domenico Corica; Tommaso Aversa; Malgorzata Wasniewska
Journal:  Genes (Basel)       Date:  2021-02-04       Impact factor: 4.096

3.  Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.

Authors:  Anna Hogendorf; Maciej Zieliński; Maria Constantinou; Robert Śmigiel; Jolanta Wierzba; Krystyna Wyka; Anna Wędrychowicz; Anna Jakubiuk-Tomaszuk; Edyta Budzynska; Malgorzata Piotrowicz; Beata S Lipska-Ziętkiewicz; Ewa Kaczorowska; Agata Cieślikowska; Anna Kutkowska-Kaźmierczak; Jolanta Fijak-Moskal; Monika Kugaudo; Małgorzata Kosińska-Urbańska; Agnieszka Szadkowska; Maciej Borowiec; Maciej Niedźwiecki; Piotr Trzonkowski; Wojciech Młynarski
Journal:  Front Immunol       Date:  2021-11-17       Impact factor: 7.561

4.  Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes.

Authors:  Anna Hogendorf; Agnieszka Szadkowska; Arkadiusz Michalak; Marta Surman; Karolina Trojan-Borczynska; Wojciech Młynarski; Szymon Janczar
Journal:  Int J Immunopathol Pharmacol       Date:  2021 Jan-Dec       Impact factor: 3.219

  4 in total

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