Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
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چکیده
منابع مشابه
Safety of Live Viral Vaccines in Patients With Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
The package inserts of live viral vaccines include immunodeficiency as a contraindication. Nevertheless, patients with mild forms of immunodeficiency may benefit from vaccination. No published guidelines exist for the administration of these vaccines specifically to patients with chromosome 22q11.2 deletion syndrome. This syndrome is also sometimes called DiGeorge syndrome and is associated wit...
متن کاملChromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this syndrome cross all medical specialties, and care of the children and adults can be complex. Many patients have a m...
متن کاملChromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).
Chromosome 22q11.2 deletion syndrome occurs in approximately 1 of 3000 children. Clinicians have defined the phenotypic features associated with the syndrome and the past 5 years have seen significant progress in determining the frequency of the deletion in specific populations. As a result, caregivers now have a better appreciation of which patients are at risk for having the deletion. Once id...
متن کاملHypocalcemic seizure mistaken for idiopathic epilepsy in two cases of DiGeorge syndrome (chromosome 22q11 deletion syndrome).
The chromosome 22q11 deletion syndrome, which is synonymous with DiGeorge syndrome, is a congenital anomaly characterized by abnormal facies, congenital heart defects, hypoparathyroidism with hypocalcemia, and immunodeficiency. Neurological manifestations of the chromosome 22q11 deletion syndrome are variable, and include mental deficiency, speech disturbances, learning difficulties, attention ...
متن کاملDiGeorge Syndrome (22q11.2 Deletion Syndrome) — Symptoms and Treatment
DiGeorge Syndrome results from microdeletion in a small segment of chromosome 22. When inherited from parents, it follows an autosomal dominant pattern. There are variable clinical features related to DiGeorge Syndrome. Most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcemia, and psychotic disorders later in adoles...
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ژورنال
عنوان ژورنال: Clinical & Experimental Immunology
سال: 2003
ISSN: 0009-9104
DOI: 10.1046/j.1365-2249.2003.02134.x