VARIABLE EXPRESSION OF “X-LINKED INFANTILE AGAMMA-GLOBULINEMIA” (X-LA)
نویسندگان
چکیده
منابع مشابه
Infantile presentation of X linked retinoschisis.
Five infants who presented with nystagmus and/or strabismus were found to have bilateral highly elevated bullous retinoschisis involving the macula. Haemorrhage was present within the schisis cavity or the vitreous in four patients. The bullous retinoschisis eventually reattached spontaneously leaving pigment demarcation lines. A family history of X linked retinoschisis (XLRS) was known in two ...
متن کاملChronic polioencephalitis with cerebral atrophy in infantile X-linked hypogammaglobulineaemia.
The development of a chronic polioencephalitis is reported in a patient with infantile X-linked hypogammaglobulinaemia (IXH Bruton type agammaglobulinaemia). In early childhood, the patient had multiple episodes of purulent inflammation involving the meninges and respiratory tract. He was given continuous administration of gammaglobulin and intermittent treatment with antibiotics, and survived ...
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CONTEXT X-linked adrenal hypoplasia congenita (AHC) is a rare but important cause of primary adrenal insufficiency and can be associated with significant morbidity and mortality. AHC is caused by mutations within the NROB1 gene that codes for the DAX-1 protein, an orphan nuclear receptor essential for the development of the hypothalamic-pituitary-adrenal axis. Affected individuals typically pre...
متن کاملThe variable course of women with X-linked Alport Syndrome
X-linked Alport syndrome (XLAS) arises from mutations in the COL4A5 gene encoding the α5-chain of type IV collagen and is associated with hematuria, ocular abnormalities and high-tone sensorineural hearing loss. Nearly all affected males have decreased kidney function resulting in end-stage renal disease (ESRD) as early as the second decade of life. It was long thought that affected females had...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1977
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197704000-00725