Immune deficiency (IgG2 deficiency), minimal centromeric association and facial dysmorphism
نویسندگان
چکیده
منابع مشابه
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Adenylosuccinate lyase deficiency (MIM 103050, ADSL) is a rare autosomal recessive disease causing severe mental retardation and/or autistic features. 2 Seizures are often observed (80%), varying in age of onset (from newborn to late childhood) and nature (tonic-clonic, “suppression burst” pattern, West syndrome, etc), and are very often resistant to all medication. Around 50% of the children s...
متن کاملImmune deficiency in CHARGE association.
CHARGE association is the sporadic, non-random concurrence of Coloboma of the eye, Heart anomalies, choanal Atresia, Retardation of growth and development, Genitourinary anomalies, Ear anomalies and deafness (CHARGE association). Other abnormalities have also been reported in small numbers of patients with CHARGE association. The molecular basis of the CHARGE association is not clear. The spect...
متن کاملAssociation of vitamin D deficiency and premature coronary artery disease
Background: Evidence suggests hypovitaminosis D is associated with increased risk of coronary artery disease (CAD) and its extent and related risk factors. However, some investigations have produced contrary results. Therefore, we aimed to evaluate the association between serum vitamin D levels and the severity of premature coronary artery involvement. Methods: This randomized prospective, cas...
متن کاملClinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
BACKGROUND Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations...
متن کاملImmune deficiency diseases.
Paediatricians have long been deeply concerned with problems of infection. The sharp decrease in childhood mortality in recent decades in highly developed countries is mainly due to progress in preventing and treating infection: for example, in Switzerland in 1973 there were about 88 000 births and only 16 deaths due to infection in children aged between 2 and 4 years in contrast to 76 killed b...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 1999
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-199901000-00054