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 |