Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.

ABSTRACT:

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 the immunological consequence of 17p11.2 deletions by determining the prevalence of immunological diseases in subjects with SMS and by assessing their immune systems via laboratory methods.

Methods

We assessed clinical histories of 76 subjects with SMS with heterozygous 17p11.2 deletions and performed in-depth immunological testing on 25 representative cohort m

SUBMITTER: Perkins T 

PROVIDER: S-EPMC5591748 | biostudies-literature | 2017 Sep - Oct

REPOSITORIES: biostudies-literature