1/3. Chronic active Epstein-Barr virus infection associated with mutations in perforin that impair its maturation.Chronic active Epstein-Barr virus infection (CAEBV) is a rare disease in which previously healthy persons develop severe, life-threatening illness. Mutations in the perforin gene have been found in familial hemophagocytic lymphohistiocytosis, which shares some features with CAEBV. We studied a patient who died at age 18, 10 years after the onset of CAEBV. The patient had high titers of antibodies to EBV, EBV rna in lymph nodes, T-cell lymphoproliferative disease, and hemophagocytic lymphohistiocytosis. dna sequencing showed novel mutations in both alleles of the perforin gene that resulted in amino acid changes in the protein. The quantity of the native form of perforin from the patient's stimulated peripheral blood mononuclear cells (PBMCs) was extremely low and immunoblotting showed accumulation of an uncleaved precursor form of perforin. Stimulated PBMCs from the patient were defective for Fas-independent cytotoxicity. These data imply that mutations in this patient resulted in reduced perforin-mediated cytotoxicity by his lymphocytes. This is the first case in which perforin mutations have been shown to result in accumulation of the uncleaved, immature form of perforin. Mutations in the perforin gene are associated with some cases of CAEBV with hemophagocytic lymphohistiocytosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/3. Lymphoepithelioma-like carcinoma of the lung: case in which the patient has been followed up for 7 years postoperatively.Primary lymphoepithelioma-like carcinoma (LELC) of the lung is a very rare disease. There is very little long term follow-up data about this disease. A 60-year-old woman was found to have abnormalities according to a routine chest X-ray examination. She was admitted to our hospital in March 1998. Since a malignant tumor of the right lung was suspected, surgical resection was performed in April of the same year. Pathological diagnosis was LELC of the lung. Its pathological stage was T1N0M0 stage IA. It has been reported that this carcinoma is associated with Epstein-Barr virus (EBV) infection. However, the patient's tumor cells were negative for EBV as examined with rna in situ hybridization technique. She is alive and has been free from recurrence of the disease over 7 years postoperatively.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/3. Undifferentiated carcinoma of the submandibular salivary gland with fulminant clinical course: a case report.Undifferentiated carcinoma of salivary glands is too poorly differentiated to be classified as any of the specific group of carcinomas. This is a rare disease, the incidence of which is rather low-to-very low in the Indian subcontinent. The tumor can assume an aggressive clinical behavior characterized by disseminated metastases. The prognosis is rated as dismal; as evidenced by this clinical report of a tumor in the submandibular salivary gland with synchronous metastases to the skull bones and in to the intracranial fossa. The putative relationship of the tumor to Epstein-Barr virus (EBV) infection is discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |