X inactivation and immunocompetence in female carriers of the X-linked hyper-IgM syndrome.
نویسندگان
چکیده
منابع مشابه
X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome.
BACKGROUND Female carriers of X-linked Alport syndrome (XLAS) demonstrate variability in clinical phenotype that, unlike males, cannot be correlated with genotype. X-inactivation, the method by which females (XX) silence transcription from one X chromosome in order to achieve gene dosage parity with males (XY), likely modifies the carrier phenotype, but this hypothesis has not been tested direc...
متن کاملCD40 ligand-deficient T cells from X-linked hyper-IgM syndrome carriers have intrinsic priming capability.
Deficiency in CD40 ligand (CD40L) expression is associated with impaired T cell immunity in mouse models and in humans. Previous studies have indicated that this is due to the failure of induction of extrinsic costimulatory molecules. However, other studies have suggested that CD40L is an intrinsic costimulatory molecule. The X-linked hyper-IgM syndrome (XHIM) is a primary immunodeficiency caus...
متن کاملX-inactivation patterns in carriers of X-linked myotubular myopathy.
X-linked myotubular myopathy is a rare severe muscle disorder in affected male neonates. Most female carriers are free from symptoms. Skewed X inactivation has been proposed to be responsible for the affected phenotype seen in some carriers. We have compared the X inactivation patterns in blood DNA with the clinical phenotype in carriers of X-linked myotubular myopathy. The X-inactivation analy...
متن کاملSkewed X-inactivation in carriers of X-linked dyskeratosis congenita.
A gene causing Dyskeratosis Congenita (DC), a rare genetic disorder associated with bone marrow failure, has been mapped to chromosome Xq28, but autosomal inheritance of the disease has also been reported. We have investigated the pattern of X-inactivation in the peripheral blood of carriers of DC using the methylation-sensitive Hpa II site in the androgen receptor gene (HUMARA). In 5 different...
متن کاملX chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets.
X linked hypophosphataemia (XLH) results from an abnormality of renal tubular phosphate reabsorption. The disorder is inherited as an X linked dominant trait and the gene has been mapped to Xp22.1-p22.2. A candidate gene (PEX) has recently been isolated. The most striking clinical features are growth retardation and skeletal abnormalities. As expected for X linked dominant disorders, females ar...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1994
ISSN: 0021-9738
DOI: 10.1172/jci117355