ABSTRACT
The Hyperimmunoglobulin E syndrome (HIES) is a rare sporadic or autosomal dominant immune and connective tissue disorder characterized by chronic eczema, cutaneous abscesses, pneumonias, invasive infections, high levels of Immunoglobulin E, primary teeth retention and bone abnormalities. We report a 24-year-old male with a history of cutaneous abscesses and esophageal candidiasis. He was admitted due to a left gluteal cellulitis. During the fifth day of hospitalization he presented a distal necrosis of the fourth finger of the right hand. Laboratory results showed high levels of IgE and positive cryoglobulins. The patient was discharged and was admitted again five days later with a new gluteal abscess. IgE levels were even higher. Applying Grimbacher scale, the diagnosis of Hyperimmunoglobulin E syndrome was reached.
Subject(s)
Adult , Humans , Male , Young Adult , Immunoglobulin E/blood , Job Syndrome/diagnosis , Skin Diseases/diagnosis , Job Syndrome/complications , Job Syndrome/drug therapy , Skin Diseases/classification , Skin Diseases/drug therapyABSTRACT
Introducción: El síndrome Hiper IgE (SHIGE) autosómico dominante (SHIGE-AD) es una inmunodeficiencia primaria asociada a alteraciones del tejido conectivo, esqueléticas, cerebrales y vasculares. La patogénesis de la inmunodeficiencia reside en una alteración en la vía Th17 lo que explica la susceptibilidad especial de estos pacientes a infecciones por S. aureus y Candida. Objetivo: Describir tres niños diagnosticados como síndrome Hiper IgE y realizar una revisión sobre el tema, con especial foco en la forma dominante de la enfermedad. Casos clínicos: Se presentan 3 niños con SHIGE (2 varones), con rash eccematoso desde el período de recién nacido, infecciones cutáneas, óticas, pulmonares, ganglionares, con niveles de IgE sérica sobre 2.000 UI/ml y eosinofilia, tratados con antimicrobianos y tópicos, con seguimiento más de 7 años. Conclusiones: Es una entidad infrecuente, que requiere alto grado de sospecha y el manejo precoz de las infecciones. Uno de sus principales diagnósticos diferenciales está dado por el niño atópico con infecciones recurrentes pero difieren en el contexto, respuesta y resolución frente a las infecciones y la falta de las otras características fenotípicas.
Introduction: Autosomal dominant Hyper IgE syndrome (HIES-AD) is a primary immunodeficiency associated with connective tissue, skeletal, vascular and brain disorders. The pathogenesis of immune deficiency lies in an alteration of Th17 cells which explains the special susceptibility of these patients to S. aureus and Candida infections. Objective: To describe three children diagnosed with hyper IgE syndrome and conduct a study on the subject, with special focus on the dominant form of the disease. Case reports: 3 children with HIES-AD (2 males and one female) with eczema since birth, skin, ear, lung, and lymph node infections, and serum IgE levels over 2,000 IU/ml and eosinophilia values, treated with antibiotics and topically, and 7 year follow-up. Conclusions: It is a rare condition that requires a high index of suspicion and early management of infections. One of its main diagnoses is atopic syndrome with recurrent infections but both conditions differ in context, response and resolution against infections and lack of other phenotypic characteristics.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Job Syndrome/diagnosis , Job Syndrome/drug therapy , Anti-Bacterial Agents/therapeutic use , Diagnosis, Differential , Eczema/etiology , Job Syndrome/complicationsABSTRACT
Hyper IgE syndrome is a rare primary immune deficiency disorder characterized by pulmonary and cutaneous infection, eczema, and elevated serum IgE levels. In this article, 4 patients with hyper IgE syndrome and recurrent pulmonary infection were reported. Four girls with history of recurrent pulmonary infections were worked up and hyper IgE syndrome was diagnosed for them. All patients had recurrent pulmonary infections including pneumonia, bronchiectasis, pulmonary abscess, hydropneumothorax. Serum IgE levels were greater than 2000 Iu/ml in all cases. Microbial cultures showed staphylococcus aureas and pseudomans aeroginosa in two cases. All patients respond well to the wide spectrum intravenous antibiotics. Extra-pulmonary manifestations including purulent lymphadenitis, and skin and brain abcesses were observed. Hyper IgE syndrome causes recurrent pulmonary and extra-pulmonary infections which response fairly well to wide spectrum antibiotic therapy
Subject(s)
Humans , Female , Lung Diseases/immunology , Child , Job Syndrome/drug therapyABSTRACT
Los individuos inmunocomprometidos frecuentemente presentan afección del sistema estomatológico, requiriendo la participación del odontólogo para una atención integral que preserve la cavidad bucal en buenas condiciones, posibilitando una adecuada nutrición y evirtando la diseminación de infecciones desde este sistema. El síndrome de Hiper-IgE (SHIEIR) es una inmunodeficiencia primaria poco frecuente, caracterizada por concentraciones séricas elevadas de IgE, asociadas a la presencia de abscesos recurrentes de tejidos superficiales y profundos debidos especialmente a Staphylococcus aureus. Un análisis reciente de 30 pacientes con SHIEIR y 50 de sus familiares, lo ha caracterizado como un desorden multisistémico que afecta el sistema inmune, la piel, la dentición, el esqueleto y el tejido conjuntivo. Desde el punto de vista odontológico, se ha reportado un retardo en la exfoliación y erupción dentariaas, pero otras manifestaciones en el sistema estomatológico han sido analizadas en detalle y sólo se reportaron superficialmente, como son la presencia de dientes supernumerarios y la candidiasis bucal recurrente. Se plantea la participación del odontólogo en el diagnóstico y tratamiento de las manifestaciones orales de los pacientes con esta inmunodeficiencia, como una parte importante del abordaje integral que tiene gran valor en la evolución de los pacientes con inmunocompromiso
Subject(s)
Humans , Male , Female , Tooth Abnormalities/diagnosis , Tooth Abnormalities/therapy , Immunoglobulin E/immunology , Mouth Diseases/etiology , Job Syndrome/complications , Job Syndrome/epidemiology , Ascorbic Acid/administration & dosage , Anti-Bacterial Agents/therapeutic use , Candidiasis, Oral/etiology , Tooth Eruption/physiology , Interferon-gamma/therapeutic use , Job Syndrome/drug therapy , Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/pathology , Staphylococcus aureus/pathogenicity , Tooth, Supernumerary/etiologyABSTRACT
É apresentado e discutido um caso incomum de asma brônquica, associada à hipereosinofilia sangüínea, hiperimunoglobulinemia. E, acompanhada de infiltraçäo intersticial pulmonar bibasilar significativa. Houve excelente resposta terapêutica à corticoidoterapia agressiva oral, seguida de manutençäo crônica típica, com doses elevadas do aerosol de dipropionato de/beclometasona.