Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies
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چکیده
منابع مشابه
Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.
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 stu...
متن کاملRAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
BACKGROUND Smith-Magenis syndrome (SMS) (OMIM No 182290) is a mental retardation syndrome characterised by behavioural abnormalities, including self injurious behaviours, sleep disturbance, and distinct craniofacial and skeletal anomalies. It is usually associated with deletion involving 17p11.2 and is estimated to occur in 1/25,000 births. Heterozygous frameshift mutations leading to protein t...
متن کاملOtorhinolaringologic manifestation of Smith-Magenis syndrome.
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome link to a contiguous-gene deletion syndrome, involving chromosome 1 7p 11.2,whose incidence is estimated to be 1:25,000 livebirth. SMS is characterised by a specific physical, behavioural and developmental pattern. The main clinical features consist of a broad flat midface with brachycefaly, broad...
متن کاملAutism spectrum features in Smith-Magenis syndrome.
Smith-Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies. The majority of cases are due to a common deletion in chromosome 17p11.2 that includes the RAI1 gene. In children with SMS, autistic-like behaviors and symptoms start to emerge around 18 months of age. This study included 26 individuals (15 females and 11 males), with...
متن کاملSleep Disturbance in Smith-Magenis Syndrome
Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Although the physical and molecular genetic features of SMS are increasingly well understood, work is more limited on SMS’s behavioral phenotype, which includes self-injury, tantrums, and sleep disturbance. This study ex...
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ژورنال
عنوان ژورنال: The Journal of Allergy and Clinical Immunology: In Practice
سال: 2017
ISSN: 2213-2198
DOI: 10.1016/j.jaip.2017.01.028