ABSTRACT
Mannose-binding lectin (MBL) is a serum protein that activates the complement and mediates phagocytosis. MBL levels and MBL2 genotype may impact upon host susceptibility to tuberculosis (TB) disease but evidence to date has been conflicting. MBL2 exon 1 and promoter genotyping and serum MBL concentrations were determined in 79 patients with active tuberculosis (58 pulmonary TB and 21 extrapulmonary or miliary TB) and 120 household healthy contacts (HHC) from a Mediterranean area (Majorca Island, Spain). Significantly higher serum MBL levels were found in patients with active tuberculosis than in HHC [median MBL concentrations 3430 ng mL(-1) (10-28 415) and 2600 ng mL(-1) (5-20 000) respectively, P = 0.002]. These higher MBL levels were mainly related to the most prevalent YA/YA wild-type diplotype. There was a strong correlation between MBL2 exon 1 and promoter genotype and MBL levels. The diplotype LYQA/HYPA was present in 12 out of 57 of the pulmonary TB cases but in none of the extrapulmonary TB patients. Diplotype LXPA/HYPA, producer of high levels of MBL, was significantly more frequent in HHC than in patients (16.8% vs. 6.4%, P = 0.031) suggesting a protective role against the development of TB disease that has not been previously found.
Subject(s)
Exons/genetics , Genetic Predisposition to Disease/genetics , Mannose-Binding Lectin/genetics , Polymorphism, Single Nucleotide , Promoter Regions, Genetic/genetics , Tuberculosis/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Female , Gene Frequency , Genotype , Haplotypes , Humans , Male , Mannose-Binding Lectin/blood , Mediterranean Islands , Middle Aged , Spain , Tuberculosis/blood , Tuberculosis, Pulmonary/blood , Tuberculosis, Pulmonary/genetics , Young AdultABSTRACT
No disponible
Subject(s)
Humans , Immunologic Deficiency Syndromes/epidemiology , Disease Notification/methods , Diseases Registries , Access to InformationABSTRACT
No disponible
Subject(s)
Humans , Diseases Registries/statistics & numerical data , Immunologic Deficiency Syndromes/epidemiology , Spain/epidemiology , Medical RecordsABSTRACT
Two thousand and fifty cases (n = 2050) of primary immunodeficiencies (PID) were registered up to February 2001. The Spanish Register for Primary Immunodeficiencies (REDIP) began in 1993. PID nomenclature and diagnostic criteria were made according to the report of the World Health Organization Scientific Group (1999). The most frequent disorders were IgA deficiency (797 registers) and common variable immunodeficiency (CVI) (389), followed by severe combined immunodeficiency and predominantly T cell defects (268), complement deficiencies (207 registers), X-linked agammaglobulinemia (87), IgG subclass deficiency (71), chronic granulomatous disease (64). Gammaglobulin replacement was the therapy in 638 patients (76%) belonging to antibody deficient group. 61 bone marrow transplants were done, 46 severe combined immunodeficiencies, 6 phagocytic disorders and 1 unclassified. Important differences in the number of cases submitted from different country areas were found.
Subject(s)
Immunologic Deficiency Syndromes/epidemiology , Registries , Agammaglobulinemia/epidemiology , Common Variable Immunodeficiency/epidemiology , Complement System Proteins/deficiency , Granulomatous Disease, Chronic/epidemiology , Humans , Immunoglobulins, Intravenous/therapeutic use , Immunologic Deficiency Syndromes/classification , Immunologic Deficiency Syndromes/therapy , Phagocytosis , Registries/statistics & numerical data , Severe Combined Immunodeficiency/epidemiology , Spain/epidemiologyABSTRACT
Hasta febrero de 2001 se registraron 2.050 casos de inmunodeficiencias primarias (IDP). El Registro Español de Inmunodeficiencias Primarias (REDIP) se inició en 1993. La nomenclatura IDP y los criterios diagnósticos se establecieron de acuerdo con el informe del grupo científico de la Organización Mundial de la Salud (1999). Las alteraciones más frecuentes fueron deficiencia de IgA (797 registros) e inmunodeficiencia variable común (IVC) (389), seguidos de inmunodeficiencia combinada grave y defectos de predominio de linfocitos T (268), deficiencias de complemento (207 registros), agammaglobulinemia ligada al cromosoma X (87), deficiencia de la subclase de IgA (71) y enfermedad granulomatosa crónica (64). En 638 pacientes (76 por ciento) que pertenecían al grupo con deficiencia de anticuerpos el tratamiento fue de sustitución de la gammaglobulina. Se llevaron a cabo 61 trasplantes de medula ósea, 46 para inmunodeficiencias combinadas graves, 6 para alteraciones fagocíticas, y uno no clasificado.Se identificaron diferencias importantes en el número de casos remitidos a partir de áreas diferentes del país (AU)
Two thousand and fifty cases (n = 2050) of primary immunodeficiencies (PID) were registered up to February 2001. The Spanish Register for Primary Immunodeficiencies (REDIP) began in 1993. PID nomenclature and diagnostic criteria were made according to the report of the World Health Organization Scientific Group (1999). The most frequent disorders were IgA deficiency (797 registers) and common variable immunodeficiency (CVI) (389), followed by severe combined immunodeficiency and predominantly T cell defects (268), complement deficiencies (207 registers), X-linked agammaglobulinemia (87), IgG subclass deficiency (71), chronic granulomatous disease (64). Gammaglobulin replacement was the therapy in 638 patients (76 %) belonging to antibody deficient group. 61 bone marrow transplants were done, 46 severe combined immunodeficiencies, 6 phagocytic disorders and 1 unclassified. Important differences in the number of cases submitted from different country areas were found (AU)
Subject(s)
Humans , Registries , Spain , Severe Combined Immunodeficiency , Immunoglobulins, Intravenous , Common Variable Immunodeficiency , Phagocytosis , Agammaglobulinemia , Immunologic Deficiency Syndromes , Granulomatous Disease, Chronic , Complement System ProteinsABSTRACT
El Registro Español de Inmunodeficiencias Primarias (REDIP) fue creado en 1993. Se admitieron los pacientes diagnosticados a partir de enero de 1980 hasta la actualidad. Los casos registrados hasta octubre de 1999 han sido 1695. Las inmunodeficiencias remitidas han sido diagnosticadas de acuerdo con los riterios de la OMS (1977). Los síndromes más registrados son, en orden de mayor a menor, en primer lugar la deficiencia selectiva de IgA (659 registros), las inmunodeficiencias combinadas severas y deficiencias de células T(233), las deficiencias de complemento (106), la agammaglobulinemia ligada al sexo (69), la deficiencia de subclases de IgG (63) y la enfermedad granulomatosa crónica (59). Los tratamientos específicos aplicados han sido fundamentalmente dos. El trasplante de médula ósea en 53 pacientes y la gammaglobulina endovenosa en 570 pacientes, de éstos últimos el 76 por ciento pertenecen al grupo de deficiencias predominantes de anticuerpos. La participación en el registro es constante y regular, existen variaciones importantes en la contribución al mismo entre las distintas comunidades autónomas. Se establece la necesidad de la actualización de la base de datos con referencia al estado actual de los pacientes registrados (AU)
Subject(s)
Humans , Diseases Registries , Immune System Diseases , Spain , Europe , Immune System Diseases/therapyABSTRACT
The Spanish Registry for Primary Immunodeficiency Diseases (REDIP) was organized in 1993. One thousand sixty-nine cases of primary immunodeficiency diseases (PID) were registered in patients diagnosed between January 1980 and December 1995. PID diagnosis was made according to the World Health Organization criteria. The most frequent disorders were IgA deficiency (n = 394) and common variable immunodeficiency (n = 213), followed by severe combined immunodeficiency (n = 61), C1 inhibitor deficiency (n = 52), X-linked agammaglobulinemia (n = 49), IgG subclass deficiency (n = 48), and chronic granulomatous disease (n = 32). A comparative study between REDIP and data recently obtained from the European registry (ESID Report, 1995) revealed important differences between phagocytic disorders and complement deficiencies reported in both registries, 4.9 vs 8.7 and 6.0 vs 3.6, while percentages of predominantly antibody deficiencies and T cell and combined deficiencies concurred with those reported in the European registry, 69.3 vs 64.7 and 14.7 vs 20.2, respectively. The heterogeneous nature of the geographical distribution of cases submitted may indicate underdiagnosis of PID in some country areas; surprisingly, the interval between the onset of clinical symptoms and diagnosis was significant, even in immunodeficiency diseases, such as IgA deficiency, which are easy to diagnose.
Subject(s)
Immunologic Deficiency Syndromes/epidemiology , Registries , Adolescent , Adult , Aged , Child , Child, Preschool , Demography , Europe/epidemiology , Humans , Infant , Middle Aged , Spain/epidemiology , Surveys and Questionnaires , World Health OrganizationABSTRACT
Three female patients, 46, 34, and 19 years old, diagnosed of hyper-IgE syndrome are reported. The most relevant clinical findings are recurrent sinopulmonary tract infections, cold staphylococcal abscesses and chronic dermatitis. All patients presented elevated serum IgE levels (> 3,000 U/ml) and blood eosinophilia (> 0.6 x 10(9) cel/l). Two patients presented impaired antibody forming capacity to tetanus and pneumococcal antigens; one of these patients also had low serum IgG2 levels. After initiation of the intravenous gammaglobulin therapy, a marked improvement of infectious problems was observed. The controversial pathophysiology of this syndrome, the antibody deficiency present in some patients and the rationale for intravenous gammaglobulin therapy are discussed.
