RESUMEN
BACKGROUND/AIM: Thrombophilia is a multifactorial predisposition for thromboembolism affecting about a tenth of any population. We investigated whether genetic counseling combined with molecular testing for two common dominant mutations (coagulation factor V Leiden and prothrombin G20210A) may increase prevention of venous thromboembolic incidents in individuals with a positive family history compared to the general population. PATIENTS AND METHODS: Mutation detection was carried out by Restriction Fragment Length Polymorphism analysis in DNA samples of 96 unrelated healthy Greeks (group A) who asked for genetic counseling for various reasons and had at least two relatives with thromboembolic incidents and 100 unrelated healthy Greeks (group B). RESULTS: In group A, both mutations were detected at five-fold higher frequencies (33.33% for Leiden and 19.79% for G20210A) compared to group B, which had frequencies typically found in the Greek population (6% and 4%, respectively). CONCLUSION: In populations with a high prevalence for these two common mutations, genetic counseling and molecular testing of at-risk individuals may significantly increase prevention of thromboembolic disease.
Asunto(s)
Asesoramiento Genético/métodos , Pruebas Genéticas/métodos , Mutación , Tromboembolia/genética , Tromboembolia/prevención & control , Trombofilia/genética , Adulto , Análisis Mutacional de ADN , Factor V/genética , Salud de la Familia , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Linaje , Polimorfismo de Longitud del Fragmento de Restricción , Protrombina/genética , Factores de Riesgo , Tromboembolia/diagnóstico , Adulto JovenRESUMEN
Primary immunodeficiencies (PIDs) are genetic disorders that predispose to frequent and severe infections, autoimmunity and cancer. The expanded life span of such patients increases the overall risk for developing cancer, which is now estimated at 4-25%. The type of malignancy depends on the primary immunodeficiency, the age of the patient and possible viral infection, suggesting that different pathogenetic mechanisms are implicated in each case. Non-Hodgkin's lymphomas predominate, accounting for 60% of cases. The PIDs known to be associated with increased incidence of malignancy are: common variable immunodeficiency, IgA deficiency and DNA repair disorders. During recent years other types have also been included, such as severe combined immunodeficiency (SCID) and Wiskott Aldrich syndrome (WAS).
Asunto(s)
Síndromes de Inmunodeficiencia/complicaciones , Neoplasias/inmunología , Humanos , Síndromes de Inmunodeficiencia/inmunología , Factores de RiesgoRESUMEN
PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including ataxia, developmental delay, and spasticity. PNP protein catalyzes the phosphorolysis of deoxyinosine and deoxyguanosine. It is found in most tissues of the body but is expressed at the highest levels in lymphoid tissues. This tissue distribution explains why the lymphoid system is predominantly affected in PNP deficiency. We describe a five-yr-old boy with muscular hypertonia, impaired growth, autoimmune hemolytic anemia, and neutropenia who underwent HSCT from his HLA-identical sister. One yr post-HSCT, the boy developed normal immunological functions, and his neurological status improved.
