An even easier method for one-step detection of both FV Leiden and FII G20210A transition.
نویسندگان
چکیده
abdominal trauma and findings did not suggest perforation of bowel or biliary tree. Infections are a major cause of morbidity and mortality in sickle cell disease.1 Patients present with pulmonary, meningeal, bone, or bloodstream infections usually caused by bacteria, although there is increasing awareness of the role of mycoplasmas and viruses in sickle lung disease. Fungal infections in sickle cell disease are very rare.2,3 This case constitutes the first description of fungal abscess in a sickle cell patient with no other identifiable immunocompromising factors. Serology for human immunodeficiency virus (HIV)-1 and -2 was negative. Lymphocyte counts, T-cell subsets, serum Ig, and complement levels were unremarkable. Neutrophil superoxide production and integrins were normal and no defect in opsonization was observed. These results notwithstanding, the occurrence of candida infection, salmonella osteomyelitis, and recurrent pneumonias in a single individual reflects profound and wide-ranging immune deficiency. This may represent one extreme of a spectrum of immune dysfunction in sickle cell disease. Functional asplenia was described in sickle cell patients three decades ago,4 but abnormalities in humoral and cell-mediated immunity5 remain less well-defined. Further investigation is required, particularly in light of the use of myelosuppressive agents such as hydroxyurea in sickle cell patients, which can potentially heighten susceptibility to infection.
منابع مشابه
Genetic polymorphisms associated with acute pulmonary embolism and deep venous thrombosis.
Frequently an inherited predisposition to thrombosis remains clinically silent until an additional environmental factor intervenes. The present study aimed to assess distribution of inherited risk factors of venous thrombosis in patients with venous thromboembolism (VTE). The prevalences of factor V Leiden (FV Leiden), prothrombin factor II G20210A (FII G20210A), C677T and A1298C of methylenete...
متن کامل510(k) SUBSTANTIAL EQUIVALENCE DETERMINATION
A. 510(k) Number: k093974 B. Purpose for Submission: New Device C. Measurand: Factor II (FII) (Prothrombin) Factor V (FV) Leiden 5, 10 methylenetetrahydrofolate reductase (MTHFR) D. Type of Test: Qualitative genotyping test for single nucleotide polymorphism detection E. Applicant: Osmetech Molecular Diagnostics F. Proprietary and Established Names: eSensor® Thrombophilia Risk Test eSensor® FII...
متن کاملCoexistence of factor V G1691A and factor II G20210A gene mutations in a thrombotic family is associated with recurrence and early onset of venous thrombosis.
Two G-to-A mutations at positions 1691 of the factor V (FV) gene and 20210 of the prothrombin (FII) gene have been associated with an increased risk of venous thromboembolism. We report a thrombosis-prone family in which one subject--the propositus who exhibited combined heterozygous FV G1691A and FII G20210A mutations--showed spontaneous and early clinical onset (at 23 years), recurrences of d...
متن کاملRelationship between Methylenetetrahydrofolate Reductase (C677T), Factor V Leiden (G1691A), Prothrombin Mutation (G20210A) and Severe Preeclampsia in a Brazilian Population
Objectives: To better understand the etiologic factors that can influence preeclampsia, we investigated hereditary factors for thrombosis, FV Leiden, F II 20210A mutation and the polymorphism C677T of the MTHFR, as singly and as in association, in a group of women from Ceará stateNortheast Brazil with severe preeclampsia. Material and Methods: We conducted a case-control study. 101 cases of sev...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Blood
دوره 92 9 شماره
صفحات -
تاریخ انتشار 1998