Clasificación de las inmunodeficiencias primarias, unas entidades múltiples y diversas / No disponible

No disponible

Clasificación de las inmunodeficiencias primarias, unas entidades múltiples y diversas / No disponible

No disponible

Registro Español de Inmunodeficiencias Primarias (REDIP). Informe de actualización. Octubre 2001 / No disponible

Dado que las Inmunodeficiencias Primarias (IDP) son enfermedades poco frecuentes, resulta de utilidad epidemiológica desarrollar registros nacionales específicos. 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 2001 han sido 2.242. Las inmunodeficiencias remitidas han sido diagnosticadas de acuerdo con los criterios de la OMS (1997) (1). Los síndromes más registrados son, en orden de frecuencia, en primer lugar la deficiencia selectiva de IgA (832 registros), seguida por la inmunodeficiencia variable común (430), las inmunodeficiencias combinadas severas y deficiencias de células T (282), las deficiencias de complemento (256), la agammaglobulinemia ligada al sexo (91), la deficiencia de subclases de IgG (90), y la enfermedad granulomatosa crónica (66). El tratamiento sustitutivo con gammaglobulina endovenosa consta registrado en 696 pacientes, de éstos 553 pertenecen al grupo de deficiencias predominantes de anticuerpos. El trasplante de médula ósea se ha realizado en 63 pacientes. El registro mantiene un aumento constante y regular, presentando variaciones importantes en la contribución al mismo entre las distintas comunidades autónoma (AU)

Due to the low frequency of primary immunodeficiency disorders (PIDs), national registries are useful to characterize the incidence and prevalence of the diff e rent disorders . The Spanish Register for Primary Immunodeficiencies (REDIP) began in 1993. Two thousand two hundred and forty two cases (n=2242) of primary immunodeficiencies were re g i s t e red till October 2001. PIDs nomenclature and diagnostic criteria were made according to the report of the Wo r l d Health Organization Scientific Group (1997). The most frequent disorders were IgA deficiency (832 registers) and common variable immunodeficiency (CVI) (430), followed by s e v e re combined immunodeficiency and predominantly T cell defects (282), complement deficiencies (256), X-linked agammaglobulinemia (91), IgG subclass deficiency (90) and chronic granulomatous disease (66). The cases of complement deficiencies were higher than the European Register due to the recent special collaboration of groups working with these diseases. Gammaglobulin replacement was the therapy in 696 patients, 553 of them belonging to antibody deficient grow up. Sixty-three bone marrow transplants were done. Important differences in the number of cases submitted from different areas in our country were found (AU)

[The Spanish Registry of Primary Immunodeficiencies (REDIP)]. / Registro español de inmunodeficiencias primarias (REDIP).

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.

[Common variable immunodeficiency. Review]. / Inmunodeficiencia variable común. Revisión.

Common variable immunodeficiency (CVI) is a primary immunodeficiency characterized by deficient antibody production. The cause of this immunodeficiency is unknown; several in vitro studies have revealed a significant number of alterations that could explain the hypogammaglobulinemia present in this syndrome. Among those described are primary B cell alterations, numerical and functional T cell abnormalities, and defects in the interaction between accessory cells. The alteration typical of CVI is the failure of B lymphocytes to differentiate from antibody-producing cells, resulting in deficient immunoglobulin secretion. Among the T cell abnormalities described are a diminished proliferative response to mitogens and antigens, alterations in the level of production of several cytokines, especially reduction in the production of IL-2, diminished antigen-specific T cells and increase basal apoptosis after stimulation. Antigen presenting cells, monocytes and dendritic cells can also present alterations and contribute to deficient antigen response. The clinical manifestations of these patients is variable; most present recurrent bacterial infections due to encapsulated bacteria, especially sinusitis, otitis, bronchitis, and pneumonias. A few patients can present mycobacterial or fungal infection and occasionally Pneumocystis carinii. Viral infection is uncommon in these patients although some suffer recurrent herpes zoster infection. Clinical features of septicemia and central nervous system infections are less frequent. The incidence of digestive tract infections in these patients is high. The most common cause of diarrhea is Giardia lamblia; Salmonella, Shigella and Campylobacter are also common pathogens. Autoimmune disease is also more prevalent in these patients than in the general population. The most frequently associated diseases are hemolytic anemia, idiopathic thrombocytopenic purpura and autoimmune neutropenia. Cancer is also frequently associated with CVI, the most common forms being lymphoproliferative syndromes, especially non-Hodgkin's lymphoma. Granulomas are a unusual manifestation in some patients with CVI; their localization varies but the most commonly affected organs are the spleen and lungs. Some authors have compared these granulomas with those characterizing sarcoidosis, especially when appearing in the lung. Diagnosis of CVI is usually by exclusion of other diseases, such as cystic fibrosis, immotile cilia syndrome or allergic processes. CVI should be suspected in all patients with recurrent bacterial infections especially those localized in the respiratory tract. Other primary immunodeficiencies which present clinical findings similar to CVI and which should be ruled out are selective IgG subclass deficiency, IgA deficiency and selective deficiency in the response to polysaccharide antigens with normal immunoglobulin levels. The serum hypogammaglobulinemia present in all patients with CVI provides the diagnostic key. The age at which clinical manifestations appear, the absence of familial antecedents and the presence of circulating B lymphocytes form the basis of the differential diagnosis between X-linked agammaglobulinemia and autosomal recessive forms. The treatment of choice of patients with CVI is treatment with human gamma-globulin. Currently, the most common route of administration is intravenous; these molecules have a half-life of approximately 21 days and a high degree of safety concerning the possible transmission of viral infections. Adverse reactions are generally few and clinically unimportant. The most frequently used doses oscillate between 200 and 400 mg/kg body weight every 2-4 weeks. Both the dose and its frequency should be personalized for each patient. Early diagnosis of patients with CVI, application of treatment with appropriate antibiotics for infections and treatment with gamma-globulins prevent long-term complications of this disease and dramatically improve the quality of life and life expectancy of these patients.

Inmunodeficiencia variable común. Revisión / Common variable immunodeficiency. Review

La inmunodeficiencia variable común (IVC) es una inmunodeficiencia primaria caracterizada por una deficiente producción de anticuerpos. La causa de esta inmunodeficiencia no es conocida; distintos estudios in vitro han puesto de manifiesto un número importante de alteraciones que podrían explicar la hipogammaglobulinemia presente en este síndrome. Entre las descritas se incluyen alteraciones primarias de la célula B, anormalidades numéricas y funcionales de la célula T y defectos de colaboración de las células accesorias. La alteración típica de la IVC es el fallo de diferenciación del linfocito B a célula productora de anticuerpos, del que resulta la deficiente secreción de inmunoglobulinas. Entre las anormalidades descritas en la célula T, se encuentran una respuesta proliferativa disminuida a mitógenos y antígenos, alteraciones en los niveles de producción de distintas citocinas, especialmente reducción en la producción de IL-2, disminución de las células T específicas para antígeno y aumento de la apoptosis basal y tras estimulación. Las células presentadoras de antígeno, monocitos y células dendríticas, también pueden presentar alteraciones y contribuir a una respuesta a antígenos deficitaria.La expresión clínica de estos pacientes es variable; la mayoría presentan infecciones bacterianas de repetición por bacterias encapsuladas, especialmente sinusitis, otitis, bronquitis y neumonías. Un número reducido de pacientes puede presentar infección por micobacterias, hongos y ocasionalmente por Pneumocystis carinii. Los virus no suelen infectar a estos pacientes, aunque algunos sufren herpes zoster de repetición. Cuadros de septicemia e infecciones del sistema nervioso central son menos frecuentes. Las infecciones del aparato digestivo tienen una incidencia alta en estos enfermos. Giardia lamblia es la causa más frecuente de diarrea; Salmonella, Shigella y Campylobacter son también patógenos habituales. La presencia de enfermedad autoinmune es también superior al de la población normal. Las patologías más frecuentemente asociadas son la anemia hemolítica, la púrpura trombocitopénica idiopática y la neutropenia autoinmune. El cáncer también presenta un grado elevado de asociación con la IVC, los más frecuentes son los síndromes linfoproliferativos, en especial los linfomas no Hodgkin. Los granulomas son una manifestación peculiar de algunos pacientes con IVC; su localización es variable pero el bazo y el pulmón suelen ser los órganos más afectados. Algunos autores han comparado estos granulomas con los que caracterizan a la sarcoidosis, especialmente cuando aparecen en el pulmón. El diagnóstico de la IVC se realiza habitualmente por exclusión de otras patologías, como la fibrosis quística, el síndrome de cilio inmóvil o procesos alérgicos y debe sospecharse en todo paciente con infecciones bacterianas de repetición localizadas especialmente en aparato respiratorio. Otras inmunodeficiencias primarias que presentan una patología similar a la IVC y que deben descartarse son la deficiencia selectiva de subclases de IgG, la deficiencia de IgA y la deficiencia selectiva en la respuesta a antígenos polisacáridos con niveles normales de inmunoglobulinas. La hipogammaglobulinemia sérica presente todos los pacientes con IVC dará la clave del diagnóstico. La edad de aparición de las manifestaciones clínicas, la ausencia de historia familiar y la presencia de linfocitos B circulantes servirá para realizar el diagnóstico diferencial con la gammaglobulinemia ligada al cromosoma X y con las formas autosómicas recesivas.El tratamiento de elección de los pacientes con IVC es el sustitutivo con gammaglobulina humana; la forma más común de aplicación actual es la intravenosa; estas moléculas tienen una vida media aproximada de 21 días y un alto grado de seguridad en relación a la posible transmisión de enfermedades víricas; el número de reacciones adversas es por lo general bajo y de poca relevancia. Las dosis más utilizadas oscilan entre los 200-400 mg/kg de peso cada 2-4 semanas, pero es recomendable que tanto la dosis como la frecuencia se indiquen de forma personalizada para cada paciente. El diagnóstico precoz de los pacientes con IVC, la aplicación de los tratamientos con antibióticos adecuados para las infecciones y del sustitutivo con gammaglobulina previene las complicaciones a largo plazo de la enfermedad y mejora drásticamente la calidad y esperanza de vida de estos enfermos (AU)

Common variable immunodeficiency (CVI) is a primary immunodeficiency characterized by deficient antibody production. The cause of this immunodeficiency is unknown; several in vitro studies have revealed a significant number of alterations that could explain the hypogammaglobulinemia present in this syndrome. Among those described are primary B cell alterations, numerical and functional T cell abnormalities, and defects in the interaction between accessory cells. The alteration typical of CVI is the failure of B lymphocytes to differentiate from antibody-producing cells, resulting in deficient immunoglobulin secretion. Among the T cell abnormalities described are a diminished proliferative response to mitogens and antigens, alterations in the level of production of several cytokines, especially reduction in the production of IL-2, diminished antigen-specific T cells and increase basal apoptosis after stimulation. Antigen presenting cells, monocytes and dendritic cells can also present alterations and contribute to deficient antigen response. The clinical manifestations of these patients is variable; most present recurrent bacterial infections due to encapsulated bacteria, especially sinusitis, otitis, bronchitis, and pneumonias. A few patients can present mycobacterial or fungal infection and occasionally Pneumocystis carinii. Viral infection is uncommon in these patients although some suffer recurrent herpes zoster infection. Clinical features of septicemia and central nervous system infections are less frequent. The incidence of digestive tract infections in these patients is high. The most common cause of diarrhea is Giardia lamblia; Salmonella, Shigella and Campylobacter are also common pathogens. Autoimmune disease is also more prevalent in these patients than in the general population. The most frequently associated diseases are hemolytic anemia, idiopathic thrombocytopenic purpura and autoimmune neutropenia. Cancer is also frequently associated with CVI, the most common forms being lymphoproliferative syndromes, especially non-Hodgkin's lymphoma. Granulomas are a unusual manifestation in some patients with CVI; their localization varies but the most commonly affected organs are the spleen and lungs. Some authors have compared these granulomas with those characterizing sarcoidosis, especially when appearing in the lung. Diagnosis of CVI is usually by exclusion of other diseases, such as cystic fibrosis, immotile cilia syndrome or allergic processes. CVI should be suspected in all patients with recurrent bacterial infections especially those localized in the respiratory tract. Other primary immunodeficiencies which present clinical findings similar to CVI and which should be ruled out are selective IgG subclass deficiency, IgA deficiency and selective deficiency in the response to polysaccharide antigens with normal immunoglobulin levels. The serum hypogammaglobulinemia present in all patients with CVI provides the diagnostic key. The age at which clinical manifestations appear, the absence of familial antecedents and the presence of circulating B lymphocytes form the basis of the differential diagnosis between X-linked agammaglobulinemia and autosomal recessive forms. The treatment of choice of patients with CVI is treatment with human gamma-globulin. Currently, the most common route of administration is intravenous; these molecules have a half-life of approximately 21 days and a high degree of safety concerning the possible transmission of viral infections. Adverse reactions are generally few and clinically unimportant. The most frequently used doses oscillate between 200 and 400 mg/kg body weight every 2-4 weeks. Both the dose and its frequency should be personalized for each patient. Early diagnosis of patients with CVI, application of treatment with appropriate antibiotics for infections and treatment with gamma-globulins prevent long-term complications of this disease and dramatically improve the quality of life and life expectancy of these patients (AU)

Registro Español de Inmunodeficiencias Primarias (REDIP) / The Spanish Registry of Primary Immunodeficiencies (REDIP

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)

Registro español de inmunodeficiencias primarias. (REDIP). Informe de actualización. Noviembre-1999 / Spanish register for primary immunodeficiencies (REDIP). Update to niovember-1999

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)

CD34+ cell dose and CD33- subsets: collection and engraftment kinetics in autologous peripheral blood stem cells transplantation.

BACKGROUND AND OBJECTIVE: We analyzed the factors that affected the number and quality of peripheral blood stem cells (PBSC) collected for transplant in order to establish a minimum threshold for rapid hematopoietic recovery. DESIGN AND METHODS: From January 1995 to November 1996, a consecutive series of 67 patients, with hematologic and solid tumors underwent autologous PBSC transplantation. Collection of PBSC was performed after mobilization with granulocyte-colony stimulating factor (G-CSF) or with chemotherapy (CT) plus G-CSF. We calculated the factors that influenced PBSC collection, the kinetics of granulocyte and platelet recovery and the threshold value of CD34+ cells for a rapid recovery. The data were analyzed by means of multivariate Cox regression model and the receiver operating characteristic (ROC) methodology. RESULTS: Our results showed that mobilization with chemotherapy plus G-CSF was associated with a higher yield of PBSC in comparison with mobilization with G-CSF alone. Disease status, fewer cycles of conventional prior chemotherapy and absence of prior radiation therapy also influenced the yield of PBSC. The number of CD34+ cells, CD34+CD33- cell subsets, the mobilization schedule, and the conditioning regimen correlated significantly with time to hematopoietic recovery. In the multivariate analysis only the CD34+CD33- cell content and the total number of CD34+ were related with rapid neutrophil and platelet recovery, respectively. Use of G-CSF after transplant significantly shortened the neutrophil recovery time only in patients transplanted with suboptimal dose of PBSC. INTERPRETATION AND CONCLUSIONS: These data suggest the utility of quantitation of CD34+ cells subsets to predict quick engraftment.

Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults.

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.

[An increase in gamma-delta T-lymphocytes in the peripheral blood of cystic fibrosis patients]. / Incremento de linfocitos T gamma-delta en sangre periférica de pacientes afectos de fibrosis quística.

The function of the T gamma-delta cells of the human immune system is not well known at present. Only 3-10% of the T cells express the heterodimer composed of the gamma-delta chains. Recent studies have demonstrated a role of the T gamma-delta cells in the immunopathogenesis of autoimmune and infectious diseases. The present study was designed to evaluate the quantity of T gamma-delta cells in patients with cystic fibrosis with P. aeruginosa infections. These results were compared to blood levels of T cells found in patients with acute pulmonary infections, chronic pulmonary infections and healthy control patients. The cellular phenotype was determined by flow cytometry. Monoclonal antibodies against the different cell types studied were employed. The means of each group were compared by a Student's T test of Mann Whitney. We found that the percentage of T gamma-delta cells (TCR 1+) was significantly increased in patients with cystic fibrosis when compared to the pathological controls and healthy children. We conclude that our results demonstrate that children with cystic fibrosis infected with Pseudomonas aeruginosa demonstrate and increase in the subclass of T cells with the gamma-delta receptor.

[New diagnostic and therapeutic aspects of hyper-IgE syndrome. Report of 3 cases]. / Nuevos aspectos diagnósticos y terapéuticos del síndrome de hiper-IgE. A propósito de 3 casos.

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.