Literature DB >> 16492442

Omenn syndrome in an infant with IL7RA gene mutation.

Silvia Giliani1, Carmen Bonfim, Genevieve de Saint Basile, Gaetana Lanzi, Nicole Brousse, Adriana Koliski, Mariester Malvezzi, Alain Fischer, Luigi D Notarangelo, Francoise Le Deist.   

Abstract

Omenn syndrome (OS) is a rare combined immunodeficiency characterized by erythroderma, lymphadenopathy, and autoimmune manifestations. Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition.

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Year:  2006        PMID： 16492442     DOI： 10.1016/j.jpeds.2005.10.004

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


  25 in total

1.  Omenn's Syndrome: A rare primary immunodeficiency disorder.

Authors:  Ibtisam B Elnour; Shakeel Ahmed; Kamal Halim; V Nirmala
Journal:  Sultan Qaboos Univ Med J       Date:  2007-08

Review 2.  Atopic Dermatitis and Allergic Urticaria: Cutaneous Manifestations of Immunodeficiency.

Authors:  Martin Robert Gaudinski; Joshua D Milner
Journal:  Immunol Allergy Clin North Am       Date:  2016-10-28       Impact factor: 3.479

Review 3.  Regulatory T cells in human autoimmune diseases.

Authors:  Troy R Torgerson
Journal:  Springer Semin Immunopathol       Date:  2006-08-11

4.  Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model.

Authors:  Khie Khiong; Masaaki Murakami; Chika Kitabayashi; Naoko Ueda; Shin-ichiro Sawa; Akemi Sakamoto; Brian L Kotzin; Stephen J Rozzo; Katsuhiko Ishihara; Marileila Verella-Garcia; John Kappler; Philippa Marrack; Toshio Hirano
Journal:  J Clin Invest       Date:  2007-05       Impact factor: 14.808

5.  Matched unrelated bone marrow transplant for Omenn syndrome.

Authors:  Amit Nahum; Brenda Reid; Eyal Grunebaum; Chaim M Roifman
Journal:  Immunol Res       Date:  2009       Impact factor: 2.829

6.  IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.

Authors:  Manish J Butte; Charles Haines; Francisco A Bonilla; Jennifer Puck
Journal:  Clin Immunol       Date:  2007-09-12       Impact factor: 3.969

Review 7.  Genetics of SCID.

Authors:  Fausto Cossu
Journal:  Ital J Pediatr       Date:  2010-11-15       Impact factor: 2.638

8.  Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).

Authors:  Svetlana O Sharapova; Irina E Guryanova; Olga E Pashchenko; Irina V Kondratenko; Larisa V Kostyuchenko; Yulia A Rodina; Tatjana V Varlamova; Anastasiia V Bondarenko; Liudmyla I Chernyshova; Marina N Gyseva; Mikhail V Belevtsev; Nina V Minakovskaya; Olga V Aleinikova
Journal:  J Clin Immunol       Date:  2015-11-23       Impact factor: 8.317

9.  Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.

Authors:  A R Gennery; M A Slatter; J Rice; L H Hoefsloot; D Barge; A McLean-Tooke; T Montgomery; J A Goodship; A D Burt; T J Flood; M Abinun; A J Cant; D Johnson
Journal:  Clin Exp Immunol       Date:  2008-05-26       Impact factor: 4.330

10.  Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

Authors:  Osama Alsmadi; Abdulaziz Al-Ghonaium; Saleh Al-Muhsen; Rand Arnaout; Hasan Al-Dhekri; Bandar Al-Saud; Fadi Al-Kayal; Haya Al-Saud; Hamoud Al-Mousa
Journal:  BMC Med Genet       Date:  2009-11-13       Impact factor: 2.103
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