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


Authors: Small, T. N.; Wall, D. A.; Kurtzberg, J.; Cowan, M. J.; O'Reilly, R. J.; Friedrich, W.
Article Title: Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness
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.
Keywords: human tissue; retrospective studies; human cell; neutropenia; case report; phenotype; disease association; leukopenia; incidence; thymus gland; infant; infant, newborn; newborn; leukocyte count; bone marrow transplantation; combined immunodeficiency; severe combined immunodeficiency; histocompatibility testing; audiometry; perception deafness; lymphatic diseases; deafness; humans; human; male; female; priority journal; article; evoked potentials, auditory, brain stem
Journal Title: Journal of Pediatrics
Volume: 135
Issue: 3
ISSN: 0022-3476
Publisher: Elsevier Inc.  
Date Published: 1999-09-01
Start Page: 387
End Page: 389
Language: English
PUBMED: 10484810
PROVIDER: scopus
DOI: 10.1016/S0022-3476(99)70141-1
DOI/URL:
Notes: Article -- Export Date: 16 August 2016 -- Source: Scopus
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  1. Trudy Small
    234 Small
  2. Richard O'Reilly
    747 O'Reilly