Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness.
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.
Small
T N
TN
Department of Pediatrics, Bone Marrow Transplant Services of Memorial Sloan-Kettering Cancer Center, New York City, NY 10021, USA.
Wall
D A
DA
Kurtzberg
J
J
Cowan
M J
MJ
O'Reilly
R J
RJ
Friedrich
W
W
D001299:Audiometry; D016026:Bone Marrow Transplantation; D003638:Deafness / Q000151:congenital* / Q000175:diagnosis*; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006650:Histocompatibility Testing; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007958:Leukocyte Count; D007970:Leukopenia / Q000097:blood / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008206:Lymphatic Diseases / Q000097:blood / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008297:Male; D012189:Retrospective Studies; D016511:Severe Combined Immunodeficiency / Q000097:blood / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D013950:Thymus Gland