Literature DB >> 8319706

IgG4 deficiency with Rothmund-Thomson syndrome: a case report.

M Kubota1, M Yasunaga, H Hashimoto, H Kimata, H Mikawa, A Shinya, C Nishigori.   

Abstract

We describe a patient with Rothmund-Thomson syndrome and IgG4 deficiency. In vitro examination of his peripheral mononuclear cells revealed impaired IgG4 synthesis. Susceptibility to sinus and pulmonary infections was cured by monthly immunoglobulin infusions.

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Year:  1993        PMID： 8319706     DOI： 10.1007/bf01955898

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  16 in total

Review 1.  Bloom syndrome and ataxia telangiectasia.

Authors:  J C Llerena; M Murer-Orlando
Journal:  Semin Hematol       Date:  1991-04       Impact factor: 3.851

2.  The inductive effect of interleukin-4 on IgG4 and IgE synthesis in human peripheral blood lymphocytes.

Authors:  A Ishizaka; Y Sakiyama; M Nakanishi; K Tomizawa; E Oshika; K Kojima; Y Taguchi; E Kandil; S Matsumoto
Journal:  Clin Exp Immunol       Date:  1990-03       Impact factor: 4.330

3.  ELISA measurement of IgG subclass production in culture supernatants using monoclonal antibodies.

Authors:  P Bird; J E Calvert; J Lowe; M Duggan-Keen; N G Forouhi; I Seppälä; N R Ling
Journal:  J Immunol Methods       Date:  1987-11-23       Impact factor: 2.303

4.  IgG subclass levels in infancy and childhood.

Authors:  V A Oxelius
Journal:  Acta Paediatr Scand       Date:  1979-01

5.  Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients.

Authors:  P J Smith; M C Paterson
Journal:  Mutat Res       Date:  1982-05       Impact factor: 2.433

6.  The scid mutation in mice causes a general defect in DNA repair.

Authors:  G M Fulop; R A Phillips
Journal:  Nature       Date:  1990-10-04       Impact factor: 49.962

7.  Rothmund's syndrome; Thomson's syndrome; congenital poikiloderma with or without juvenile cataracts.

Authors:  W B TAYLOR
Journal:  AMA Arch Derm       Date:  1957-02

8.  Deficiency of IgG4 in children: association of isolated IgG4 deficiency with recurrent respiratory tract infection.

Authors:  R B Moss; M A Carmack; S Esrig
Journal:  J Pediatr       Date:  1992-01       Impact factor: 4.406

9.  Nerve growth factor specifically induces human IgG4 production.

Authors:  H Kimata; A Yoshida; C Ishioka; T Kusunoki; S Hosoi; H Mikawa
Journal:  Eur J Immunol       Date:  1991-01       Impact factor: 5.532

10.  scid mutation in mice confers hypersensitivity to ionizing radiation and a deficiency in DNA double-strand break repair.

Authors:  K A Biedermann; J R Sun; A J Giaccia; L M Tosto; J M Brown
Journal:  Proc Natl Acad Sci U S A       Date:  1991-02-15       Impact factor: 11.205
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  5 in total

1.  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
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Authors:  Alireza Baradaran-Heravi; Anja Raams; Joanna Lubieniecka; Kyoung Sang Cho; Kristi A DeHaai; Mitra Basiratnia; Pierre-Olivier Mari; Yutong Xue; Michael Rauth; Ann Haskins Olney; Mary Shago; Kunho Choi; Rosanna A Weksberg; Malgorzata J M Nowaczyk; Weidong Wang; Nicolaas G J Jaspers; Cornelius F Boerkoel
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3.  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

4.  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

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

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