Inmunological Approaches in patients with suspected DiGeorge Syndrome
نویسندگان
چکیده
منابع مشابه
Perioperative management of patients with DiGeorge syndrome undergoing cardiac surgery.
OBJECTIVE DiGeorge syndrome is a genetic disorder with multisystem involvement resulting in craniofacial and cardiac anomalies and parathyroid and immune system dysfunction. This study describes perioperative management of a large cohort of patients with DiGeorge syndrome undergoing cardiac surgery. DESIGN Retrospective cohort study. SETTING Major academic tertiary institution. PARTICIPAN...
متن کاملDigeorge syndrome presenting with uncommon cardiac anomaly and hepatomegaly
Digeorge syndrome is caused by microdeletion of a large region of chromosome 22q11.2 lead to the abnormal development of the third and fourth pharyngeal pouches. This syndrome is characterized by hypoparathyroidism, cellular immune deficiency secondary to thymic hypoplasia, congenital heart disease and dysmorphic facial features. In this case report, we describe a 4month old boy who presented w...
متن کاملSafety 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 کاملClinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mild skeletal anomalies, and facial dysmorphisms are associated with no abnormalities found on genetic tests.
متن کاملFeatures of DiGeorge syndrome and CHARGE association in five patients.
We report on five patients presenting with features of two congenital disorders, DiGeorge syndrome (DGS) and CHARGE association. CHARGE association is usually sporadic and its origin is as yet unknown. Conversely, more than 90% of DGS patients are monosomic for the 22q11.2 chromosomal region. In each of the five patients, both cytogenetic and molecular analysis for the 22q11.2 region were norma...
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2015
ISSN: 1664-3224
DOI: 10.3389/conf.fimmu.2015.05.00352