von Recklinghausen Disease in a Patient with X-linked Agammaglobulinemia.
نویسندگان
چکیده
منابع مشابه
Pyoderma Gangrenosum in a Patient with X-Linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations of B-cell tyrosine kinase (BTK) gene. It is characterized by decreased serum immunoglobulins levels and circulating mature B cells. This defect in humoral immunity leads to increased susceptibility to infection. Pyoderma gangrenosum (PG) is an uncommon, ulcerating, neutrophilic dermatosis. Here...
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von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves mutations within the NF1 gene located on chromosome 17 in locus q11.2. The product of the NF1 gene is neurofibromin and the protein is well kn...
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Type I Neurofibromatosis (NF1) is an autosomal-dominant inheritable disorder, with an incidence of 1:3,000, and a prevalence of 1:4,000 to 5,000. Pathogenesis is based on mutations of the NF1 gene, a tumor suppressor gene encoding a cytoplasmic protein named neurofibromin that controls cellular proliferation. Patients affected by NF1 typically present with cutaneous neurofibromas, cafè au lait ...
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x-linked agammaglobulinemia (xla) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced b lymphocytes number. in order to determine the association of neutropenia among iranian patients with xla, hospital records of 30 patients with confirmed xla in children medical center hospital, were reviewed. eight ou...
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Introduction Vasculopathy, such as an aneurysm, stenosis, rupture, or arteriovenous fistula, in patients with neurofibromatosis type I (NF-1; von Recklinghausen disease) is well recognised. However, there has been no report regarding treatment for a ruptured lumbar artery aneurysm associated with NF-1. We present the first report of successful endovascular treatment by coil embolisation for a r...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2002
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.41.1039