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INTRODUCTION: Hyper-IgM syndrome is an innate error of immunity in which there is a defect in change of isotype of immunoglobulins, with decreased values of IgG, IgA, and IgE, but normal or increased level of IgM. This predisposes to infectious processes at the respiratory and gastrointestinal levels, as well as autoimmune diseases and neoplasm. CASE REPORT: A 5 year 7-month-old boy with a history of 2 pneumonias, one of them severe, and chronic diarrhea since he was 2 years old. Persistent moderate neutropenia decreased IgG and elevated IgM. Cytometry flow confirmed absence of CD40L. Clinical evolution with early hepatic involvement. DISCUSSION: Hyper-IgM syndrome predisposes to liver damage, so a complete evaluation is required as well as early diagnosis. Active anti-infective treatment and control of the inflammatory response are key to the treatment of liver damage.

INTRODUCCIÓN: El síndrome de hiper-IgM es un error innato de la inmunidad, caracterizado por un defecto en el cambio de isotipo de inmunoglobulina, con valores disminuidos de IgG, IgA e IgE, y concentraciones normales o elevadas de IgM. Predispone a procesos infecciosos en el sistema respiratorio y aparato gastrointestinal, además de enfermedades autoinmunes y neoplasias. REPORTE DE CASO: Paciente pediátrico de género masculino, de 5 años y 7 meses de edad, con antecedente de dos cuadros de neumonía (uno de estos grave) y diarrea crónica desde los 2 años. Neutropenia moderada persistente, disminución de la concentración de IgG y elevación de IgM. La citometría de flujo confirmó la ausencia de CD40L. Durante la evolución clínica tuvo afectación hepática temprana. CONCLUSIÓn: El síndrome de hiper-IgM predispone a daño hepático, por lo que se requiere la evaluación completa y el diagnóstico oportuno. El tratamiento antiinfeccioso activo y el control de la respuesta inflamatoria son factores decisivos para establecer el tratamiento del daño hepático.

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Hyper-IgM (HIGM) syndrome is a heterogeneous group of disorders characterized by normal or elevated serum IgM levels associated with absent or decreased IgG, IgA and IgE. Here we summarize data from the HIGM syndrome Registry of the Latin American Society for Immunodeficiencies (LASID). Of the 58 patients from 51 families reported to the registry with the clinical phenotype of HIGM syndrome, molecular defects were identified in 37 patients thus far. We retrospectively analyzed the clinical, immunological and molecular data from these 37 patients. CD40 ligand (CD40L) deficiency was found in 35 patients from 25 families and activation-induced cytidine deaminase (AID) deficiency in 2 unrelated patients. Five previously unreported mutations were identified in the CD40L gene (CD40LG). Respiratory tract infections, mainly pneumonia, were the most frequent clinical manifestation. Previously undescribed fungal and opportunistic infections were observed in CD40L-deficient patients but not in the two patients with AID deficiency. These include the first cases of pneumonia caused by Mycoplasma pneumoniae, Serratia marcescens or Aspergillus sp. and diarrhea caused by Microsporidium sp. or Isospora belli. Except for four CD40L-deficient patients who died from complications of presumptive central nervous system infections or sepsis, all patients reported in this study are alive. Four CD40L-deficient patients underwent successful bone marrow transplantation. This report characterizes the clinical and genetic spectrum of HIGM syndrome in Latin America and expands the understanding of the genotype and phenotype of this syndrome in tropical areas.

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La infección por el virus de la hepatitis A (VHA) sigue siendo un problema de salud pública en los países en vías de desarrollo. El objetivo de la presente investigación fue determinar la incidencia de la infección por el VHA en individuos de la ciudad de Maracaibo, estado Zulia, Venezuela. Durante el periodo comprendido entre enero 2004 a diciembre 2007 se seleccionaron 1056 pacientes en edades de 1 a 60 años de ambos sexos (media ± DS: 27,48 ± 5,24), procedentes de los municipio Maracaibo y San Francisco ubicados en la ciudad de Maracaibo estado Zulia, Venezuela. La presencia de anticuerpos anti-IgM contra el virus de la hepatitis A se determinó mediante métodos convencionales de micro partículas enzimoinmunoanalisis (MEIA). Los resultados encontrados indican una seropositividad en 73 (35,1%), 76 (28%), 66 (24,3%), 35 (20,3%) individuos de las zonas Norte, Sur, Este, Oeste respectivamente, correspondientes al municipio Maracaibo y 31 (23,3%) correspondiente al municipio San Francisco. La mayor prevalencia fue observada en pacientes del sexo femenino menor de 20 años (47,3%), y en pacientes del sexo masculino menor de 10 años (53,7%), siendo el signo clínico más frecuente la ictericia (95,7%). Las deficientes medidas de saneamiento ambiental y sanitario fueron factores aparentemente determinantes en la diseminación del VHA

Hepatitis A virus (HAV) infection continues to be a public health problem in developing countries. The aim of this study was to determine incidence of the hepatitis A virus infection in a population from Maracaibo, Venezuela. From January, 2004 until December, 2007, this study was carried out on 1056 individuals, whose ages were between 1-60 years (average ± DS: 27.48 ± 5.24 years), coming from the Maracaibo and San Francisco municipalities, Venezuela. The IgM antibody against HAV was determined by the ELISA technique. The overall incidence was 26.6%. The North, South, East and West areas of the Maracaibo Municipality and the San Francisco Municipality in the city of Maracaibo showed incidences of 73 (35.1%), 76 (28%), 66 (24.3%), 35 (20.3%) and 31 (23.3%), respectively. The highest incidences were observed in females under 20 years (47.3%) and males under 10 years (53.7%). The most frequent clinical sign was jaundice in 95.7% of patients. Deficient sanitary conditions and hygiene habits seemed to be the main risk factors in spreading HAV infection

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