Literature DB >> 10417436

Rothmund-Thomson syndrome with herpes encephalitis.

T Ito1, Y Tokura, S Moriwaki, K Yasuda, A Ohnishi, F Furukawa, K Yamaizumi, M Takigawa.   

Abstract

A 4-year-old Japanese boy with Rothmund-Thomson syndrome suffered from severe herpes encephalitis at 5 months of age. The serum level of immunoglobulin G was low and the responsiveness of peripheral blood mononuclear cells to bacterial superantigens was poor. It was suggested that these immunological abnormalities, possibly associated with Rothmund-Thomson syndrome, led to severe infection with herpes simplex virus in our patient.

Entities:  

Mesh:

Year:  1999        PMID: 10417436

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN: 1167-1122            Impact factor:   3.328


  7 in total

1.  Dental management of Rothmund-Thomson syndrome with partial anodontia.

Authors:  Nilesh Vithaldas Rathi; Mayur Shrigopal Bhattad; Nilima Thosar; Sudhindra Baliga
Journal:  BMJ Case Rep       Date:  2015-06-01

2.  Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.

Authors:  Shinichi Moriwaki; Masahiro Takigawa; Naoya Igarashi; Yayoi Nagai; Hiroo Amano; Osamu Ishikawa; Sikandar G Khan; Kenneth H Kraemer
Journal:  Exp Dermatol       Date:  2012-04       Impact factor: 3.960

3.  Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.

Authors:  Lien De Somer; Carine Wouters; Marie-Anne Morren; Rita De Vos; Joost Van Den Oord; Koenraad Devriendt; Isabelle Meyts
Journal:  Orphanet J Rare Dis       Date:  2010-12-08       Impact factor: 4.123

4.  Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature.

Authors:  M M G Vollebregt; A Malfroot; M De Raedemaecker; M van der Burg; J E van der Werff Ten Bosch
Journal:  Case Reports Immunol       Date:  2015-05-06

5.  Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Authors:  Francesc Rudilla; Clara Franco-Jarava; Mónica Martínez-Gallo; Marina Garcia-Prat; Andrea Martín-Nalda; Jacques Rivière; Aina Aguiló-Cucurull; Laura Mongay; Francisco Vidal; Xavier Solanich; Iñaki Irastorza; Juan Luis Santos-Pérez; Jesús Tercedor Sánchez; Ivon Cuscó; Clara Serra; Noelia Baz-Redón; Mónica Fernández-Cancio; Carmen Carreras; José Manuel Vagace; Vicenç Garcia-Patos; Ricardo Pujol-Borrell; Pere Soler-Palacín; Roger Colobran
Journal:  Front Immunol       Date:  2019-10-01       Impact factor: 7.561

Review 6.  Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Authors:  Megan Schmit; Anja-Katrin Bielinsky
Journal:  Int J Mol Sci       Date:  2021-01-18       Impact factor: 5.923

Review 7.  DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.

Authors:  Richa Sharma; Sara Lewis; Marcin W Wlodarski
Journal:  Front Pediatr       Date:  2020-10-23       Impact factor: 3.418

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.