Article
Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.
The journal of allergy and clinical immunology. In practice - 1 Jan 2000
Perkins Tiffany, Rosenberg Jacob M, Le Coz Carole, Alaimo Joseph T, Trofa Melissa, Mullegama Sureni V, Antaya Richard J, Jyonouchi Soma, Elsea Sarah H, Utz Paul J, Meffre Eric, Romberg Neil
Abstract excerpt
BACKGROUND: Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder associated with recurrent otitis. Most SMS cases result from heterozygous interstitial chromosome 17p11.2 deletions that encompass not only the intellectual disability gene retinoic acid-induced 1 but also other genes associated with immunodeficiency, autoimmunity, and/or malignancy. OBJECTIVES: The goals of this study were to describe...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.