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.

• Authors: T N Small, D A Wall, J Kurtzberg, M J Cowan, R J O'Reilly, W Friedrich
• Journal: The Journal of pediatrics (J Pediatr) Vol. 135 Issue 3 Pg. 387-9 (Sep 1999) ISSN: 0022-3476 [Print] United States
• PMID: 10484810 (Publication Type: Case Reports, Journal Article)

Topics

• Audiometry
• Bone Marrow Transplantation
• Deafness (congenital, diagnosis)
• Evoked Potentials, Auditory, Brain Stem
• Female
• Histocompatibility Testing
• Humans
• Incidence
• Infant
• Infant, Newborn
• Leukocyte Count
• Leukopenia (blood, congenital, diagnosis, genetics, therapy)
• Lymphatic Diseases (blood, congenital, diagnosis, genetics, therapy)
• Male
• Retrospective Studies
• Severe Combined Immunodeficiency (blood, congenital, diagnosis, genetics, therapy)
• Thymus Gland