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

T N Small; D A Wall; J Kurtzberg; M J Cowan; R J O'Reilly; W Friedrich

doi:10.1016/s0022-3476(99)70141-1

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

J Pediatr. 1999 Sep;135(3):387-9. doi: 10.1016/s0022-3476(99)70141-1.

Authors

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

Affiliation

¹ Department of Pediatrics, Bone Marrow Transplant Services of Memorial Sloan-Kettering Cancer Center, New York City, NY 10021, USA.

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

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.

Publication types

Case Reports

MeSH terms

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