Literature DB >> 10484810

Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness.

T N Small1, D A Wall, J Kurtzberg, M J Cowan, R J O'Reilly, W Friedrich.   

Abstract

Reticular dysgenesis is a rare congenital disorder characterized by severe combined immunodeficiency and profound neutropenia, curable to date, only by bone marrow transplantation. This report describes the association of bilateral sensorineural deafness with this disease.

Entities:  

Mesh：

Year:  1999        PMID： 10484810     DOI： 10.1016/s0022-3476(99)70141-1

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


  5 in total

1.  Postpartum HLA-Matched Bone Marrow Donation from Mother to Neonate for Reticular Dysgenesis.

Authors:  Gregory M T Guilcher; Nicola A M Wright; Tony H Truong; Andrew Daly; Victor A Lewis
Journal:  J Clin Immunol       Date:  2016-12-03       Impact factor: 8.317

2.  Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Authors:  Manfred Hoenig; Chantal Lagresle-Peyrou; Ulrich Pannicke; Luigi D Notarangelo; Fulvio Porta; Andrew R Gennery; Mary Slatter; Morton J Cowan; Polina Stepensky; Hamoud Al-Mousa; Daifulah Al-Zahrani; Sung-Yun Pai; Waleed Al Herz; Hubert B Gaspar; Paul Veys; Koichi Oshima; Kohsuke Imai; Hiromasa Yabe; Lenora M Noroski; Nico M Wulffraat; Karl-Walter Sykora; Pere Soler-Palacin; Hideki Muramatsu; Mariam Al Hilali; Despina Moshous; Klaus-Michael Debatin; Catharina Schuetz; Eva-Maria Jacobsen; Ansgar S Schulz; Klaus Schwarz; Alain Fischer; Wilhelm Friedrich; Marina Cavazzana
Journal:  Blood       Date:  2017-03-22       Impact factor: 22.113

3.  First reported case of Omenn syndrome in a patient with reticular dysgenesis.

Authors:  Lauren A Henderson; Francesco Frugoni; Gregory Hopkins; Waleed Al-Herz; Katja Weinacht; Anne Marie Comeau; Francisco A Bonilla; Luigi D Notarangelo; Sung-Yun Pai
Journal:  J Allergy Clin Immunol       Date:  2012-09-24       Impact factor: 10.793

Review 4.  Genetic insights into congenital neutropenia.

Authors:  Christoph Klein; Karl Welte
Journal:  Clin Rev Allergy Immunol       Date:  2010-02       Impact factor: 8.667

5.  Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.

Authors:  Ulrich Pannicke; Manfred Hönig; Isabell Hess; Claudia Friesen; Karlheinz Holzmann; Eva-Maria Rump; Thomas F Barth; Markus T Rojewski; Ansgar Schulz; Thomas Boehm; Wilhelm Friedrich; Klaus Schwarz
Journal:  Nat Genet       Date:  2008-11-30       Impact factor: 38.330
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.