Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease
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چکیده
منابع مشابه
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.
HRONIC granulomatous disease (CGD) is an immunoC deficiency syndrome characterized clinically by severe recurrent bacterial and fungal infections that are difficult to treat by conventional means. These infections predominate in the lymph nodes, the subcutaneous tissues, the lungs, the liver and the bones. Gastrointestinal manifestations include diarrhea, perianal abscesses, and obstructions ca...
متن کاملrecessive chronic granulomatous disease
A 2 year old girl presented with epilepsy 16 months after being diagnosed as having autosomal recessive chronic granulomatous disease. Computed tomography showed a cerebral mass which was surgicaily removed and proved histologicaily to be an aspergilloma. This case illustrates the application of molecular diagnostic techniques to the diagnosis of chronic granulomatous disease. The occurrence of...
متن کاملStudy on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inhe...
متن کاملOrigin of mutations in two families with X-linked chronic granulomatous disease.
The most common X-linked recessive form of chronic granulomatous disease (X-CGD) is characterized by the absence of cytochrome b558 in neutrophils. In a rare variant form of X-CGD, cytochrome b558 is present but not functional. The gene (locus symbol CYBB) was localized to band Xp21 by studies of patients with small chromosome deletions. The gene was cloned based on its location and found to en...
متن کاملIdentification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.
X-linked chronic granulomatous disease (CGD) is due to mutations in the gp91phox gene on Xp21.1. Studies in white and Japanese X-linked CGD patients have shown mutations in nearly every exon. We studied the molecular defect of seven Chinese patients with X-linked CGD from six unrelated families. Mutations were located by single-strand conformation polymorphism and then defined by sequence analy...
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ژورنال
عنوان ژورنال: Blood
سال: 1996
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v87.5.1663.1663