First reported case of Omenn syndrome in a patient with reticular dysgenesis-Reference-Cited by-同舟云学术

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

Published:2013-04 Issue:4 Volume:131 Page:1227-1230.e3
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Henderson Lauren A.,Frugoni Francesco,Hopkins Gregory,Al-Herz Waleed,Weinacht Katja,Comeau Anne Marie,Bonilla Francisco A.,Notarangelo Luigi D.,Pai Sung-Yun

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference11 articles.

1. Reticular dysgenesia;de Vaal;Lancet,1959

2. Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness;Small;J Pediatr,1999

3. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness;Lagresle-Peyrou;Nat Genet,2009

4. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2;Pannicke;Nat Genet,2009

5. Omenn syndrome: inflammation in leaky severe combined immunodeficiency;Villa;J Allergy Clin Immunol,2008

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