Literature DB >> 11598613

Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis.

J D Edgar1, A E Smyth, J Pritchard, D Lammas, E Jouanguy, R Hague, V Novelli, S Dempsey, L Sweeney, A J Taggart, D O'hara, J L Casanova, D S Kumararatne.   

Abstract

Two patients who were initially given a diagnosis of Langerhans' cell histiocytosis on the basis of the clinical, radiologic, and biopsy findings had mycobacterial infection subsequently identified. The correct diagnosis of dominant partial interferon-gamma receptor deficiency was established.

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Year:  2001        PMID： 11598613     DOI： 10.1067/mpd.2001.117068

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


  7 in total

1.  Differential response to interferon-gamma therapy in a family with dominant negative partial interferon-gamma receptor1 deficiency.

Authors:  Anita E Smyth; Paul Jackson; David Lammas; M Suhail Asghar; Alistair D Crockard; Jean-Laurent Casanova; Dinakantha S Kumararatne; J David M Edgar
Journal:  Eur J Pediatr       Date:  2005-09-06       Impact factor: 3.183

2.  Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.

Authors:  Masaru Imamura; Tomoki Kawai; Satoshi Okada; Kazushi Izawa; Takayuki Takachi; Haruko Iwabuchi; Sakiko Yoshida; Ryosuke Hosokai; Hirokazu Kanegane; Tatsuo Yamamoto; Hajime Umezu; Ryuta Nishikomori; Toshio Heike; Makoto Uchiyama; Chihaya Imai
Journal:  J Clin Immunol       Date:  2011-07-14       Impact factor: 8.317

Review 3.  Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Authors:  Jacinta Bustamante; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Semin Immunol       Date:  2014-10-26       Impact factor: 11.130

Review 4.  Intact IFN-γR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease.

Authors:  Willemijn T Quispel; Janine A Stegehuis-Kamp; Susy J Santos; Annelies van Wengen; Edward Dompeling; R Maarten Egeler; Esther van de Vosse; Astrid G S van Halteren
Journal:  J Clin Immunol       Date:  2013-11-20       Impact factor: 8.317

Review 5.  Heterogeneity in the granulomatous response to mycobacterial infection in patients with defined genetic mutations in the interleukin 12-dependent interferon-gamma production pathway.

Authors:  David A Lammas; E De Heer; J D Edgar; V Novelli; A Ben-Smith; R Baretto; P Drysdale; J Binch; C MacLennan; D S Kumararatne; S Panchalingam; T H M Ottenhoff; J-L Casanova; J F Emile
Journal:  Int J Exp Pathol       Date:  2002-02       Impact factor: 1.925

6.  The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.

Authors:  Satoshi Okada; Nobutsune Ishikawa; Ken'ichiro Shirao; Hiroshi Kawaguchi; Miyuki Tsumura; Yoshinori Ohno; Shin'ichiro Yasunaga; Motoaki Ohtsubo; Yoshihiro Takihara; Masao Kobayashi
Journal:  J Med Genet       Date:  2007-05-18       Impact factor: 6.318

7.  Case Report: Disseminated Mycobacterium intracellulare Infection With More Than 1-Year Follow-Up in a Young Boy With IFNGR1 Deficiency.

Authors:  Jihang Jia; Yu Zhu; Qin Guo; Chaomin Wan
Journal:  Front Pediatr       Date:  2022-02-28       Impact factor: 3.418
  7 in total

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