Manifestaciones cutáneas en lactante con síndrome de hiper-IgE / Cutaneous manifestations in an infant with hyper-IgE síndrome

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Síndrome de Job / Job syndrome

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Phenotyping and long-term follow up of patients with hyper IgE syndrome

Introduction and objectives: Long-term follow up of patients with hyper IgE syndrome (HIES), as a primary immunodeficiency disorder, has been poorly investigated. This study describes common clinical and immunological features of patients with HIES in the last 10 years in Shiraz University of Medical Sciences, Shiraz, Iran. Methods and patients: In this cross-sectional study, the symptoms and medical records of 18 patients, who were diagnosed with HIES, were observed. Genetic and immunologic study was also performed. Results: Eighteen patients with the mean age of 13 years old were investigated. Ten patients were detected to have mutations in DOCK8 gene and autosomal recessive HIES (AR-HIES); and four patients were found with STAT3 mutation and autosomal dominant HIES (AD-HIES). So, 14 patients with known genetic results were considered for further data analysis. Food allergy, eczema, viral and skin infections were the major complications of AR-HIES patients. The major clinical complications of AD-HIES patients were pneumonia, skin infections and eczema. Food allergy and viral infection were significantly higher in DOCK8 deficient patients. The most common causes of hospitalization in both AR-HIES and AD-HIES patients were pneumonia, skin infections and sepsis. The most common cause of death was found to be sepsis. Conclusions; AD-HIES and AR-HIES cannot be differentiated only based on the clinical presentations. Genetic features are also necessary for better diagnosis. This study, summarizing the clinical, immunological and genetic information of the patients with AD-HIES and AR-HIES, may open a way for better diagnosis and management of HIES

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Amiloidosis secundaria (AA) a infecciones de repetición en el síndrome de hipergammaglobulinemia IgE / AA amyloidosis associated with recurrent infections in the hyperimmunoglobulin E syndrome

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Agenesia ovárica unilateral y malformaciones fetales en una mujer embarazada con síndrome de hiperinmunoglobulinemia E / Unilateral ovarian agenesis and malformations in a pregnant woman with hyperimmunoglobulin E syndrome

El síndrome de hiperinmunoglobulinemia E es una inmunodeficiencia primaria con manifestaciones clínicas multiorgánicas y diversos antecedentes genéticos. La tríada clínica de síntomas observados en la mayor parte de los pacientes con síndrome de hiperinmunoglobulinemia E incluye: abscesos recurrentes de etiología estafilocócica, infecciones respiratorias recurrentes y niveles séricos de inmunoglobulina E elevados (> 2.000 UI/ml). Se reporta el caso clínico de una mujer con diagnóstico de síndrome de hiperinmunoglobulinemia E a los 4 años de edad, que constituye el primer caso de embarazo a pesar de agenesia ovárica y salpinge, que sobrevive al mismo a pesar de evolucionar con neumonía severa y pulmón con bronquiectasias y neumatoceles gigantes

Hyperimmunoglobulin E syndrome is a primary immunodeficiency with multiorgan clinical manifestations and various genetic backgrounds. The clinical triad of symptoms observed in most patients with hyperimmunoglobulin E syndrome includes: recurrent staphylococcal abscesses, recurrent respiratory infections, and elevated serum IgE level > 2,000 IU/ml. We report the case of a woman who was diagnosed with hyperimmunoglobulin E syndrome at 4 years old. This is the first reported case of pregnancy despite unilateral ovarian and Fallopian tube agenesis. The patient survived the pregnancy despite severe pneumonia, bronchiectasis and giant pneumatoceles

Quantitative defects in invariant NKT cells and TLR responses in patients with hyper-IgE syndrome

BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a primary immunodeficiency mainly caused by mutations in STAT3, a signalling molecule implicated in the development of appropriate immune responses. We aimed to characterise the innate immune response in AD-HIES. METHODS: The frequency of innate immune cells in peripheral blood (PB) from seven AD-HIES patients and healthy controls were determined. CD80/CD86 surface expression and cytokine levels in supernatants from PBMC after stimulation with TLR-2, -4 and -9 agonists were also measured by flow cytometry. In addition, several SNPs within these TLR genes in genomic DNA samples from patients and controls were examined. RESULTS: A significantly reduced number of PB iNKT cells was observed in the AD-HIES group. CpG-stimulated pDC and mDC from patients exhibited a lower increase in the expression of the costimulatory molecule CD80. We also observed an increase in the secretion of IL-12p70, TNF-alpha and IL-10 in PBMC from HIES patients after LTA or LPS stimuli. No association was found between the different SNPs detected and the HIES phenotype. CONCLUSIONS: These findings demonstrate that important mediators of the innate immunity responses are affected in AD-HIES. More studies are necessary to investigate how the STAT3 function interferes with development of iNKT cells and TLR-mediated responses

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Investigation of underlying primary immunodeficiencies in patients with severe atopic dermatitis

BACKGROUND: Primary immunodeficiency diseases (PIDs) are a group of heterogeneous inherited disorders, characterised by recurrent infections, autoimmunity and malignancy. Some PIDs such as hyper IgE syndrome (HIES) and Wiskott-Aldrich syndrome (WAS) may be initially presented as atopic dermatitis (AD), especially in its severe form, resulting in diagnostic delay and poor prognosis of patients. OBJECTIVE: The aim of this study was to evaluate the frequency of PIDs among patients with severe AD and to determine factors that can help to raise suspicion towards these disorders. METHODS: Seventy-five patients with a well-established diagnosis of severe AD were enrolled in this study. Initial immunological evaluations, including humoral and cellular investigation, were performed in all individuals. Patients underwent further investigations in a case of suspicion of a probable PID. RESULTS: Among all patients with severe AD, five (6.6%) were diagnosed with HIES and one (1.3%) with WAS. Family history of PIDs, family history of death in early infancy, positive history of recurrent infections such as skin and respiratory infections, otitis media and sinusitis were observed significantly higher in patients with a diagnosis of PID. CONCLUSIONS: The presence of an underlying PID could explain the poor prognosis and refraction to the treatment of some patients with severe AD. Several clinical and laboratory findings can help the physicians to focus towards PIDs which are more serious. Delay in diagnosis of PID cases with skin manifestation of AD without proper management may result in lower quality of life and higher morbidity and mortality rates

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Prevención de la hemorragia posparto en una gestante afectada de síndrome de Hermansky-Pudlack / Prevention of postpartum hemorrhage in a patient with Hermansky-Pudlak syndrome

El síndrome de Hermansky-Pudlak es una enfermedad multisistémica de herencia autosómica recesiva. Se caracteriza principalmente por albinismo óculo-cutáneo y alteración de la agregación plaquetaria. Se presentan el seguimiento y la finalización de la gestación de una paciente de 30 años afectada de dicho síndrome. Se describen las medidas profilácticas realizadas durante el trabajo de parto con el objetivo de evitar complicaciones hemorrágicas debidas a la disfunción plaquetaria. La finalización de la gestación tuvo lugar a las 38,2 semanas mediante un parto eutócico sin anestesia peridural y con buena evolución materno-fetal(AU)

Hermansky-Pudlak syndrome is a multisystemic disease with autosomal recessive inheritance, mainly characterized by oculo-cutaneous albinism and impaired platelet aggregation. We describe the follow–up and end of pregnancy in a 30-year-old woman with this syndrome, as well as the measures carried out during labor to avoid bleeding complications due to platelet dysfunction. The pregnancy ended at 38.2 weeks through vaginal delivery, without epidural anesthesia and good maternal and fetal outcome(AU)

Trombosis del seno venoso cerebral en gestante con síndrome de Job / Cerebral venous sinus thrombosis in a pregnant woman with Job’s syndrome

La trombosis de seno venoso cerebral es una enfermedad infrecuente. La gestación es un factor de riesgo importante para su desarrollo. Se presenta el caso de una paciente con síndrome de Job y déficit de proteína C y S que presentó una trombosis del seno venoso cerebral y una fístula dural a las 36 semanas de gestación. A pesar de la heparinización, que es el tratamiento de elección, fue necesaria la terminación de la gestación para eliminar la situación protrombótica, y la embolización de la fístula dural para obtener la remisión total de la sintomatología neurológica (AU)

Cerebral venous sinus thrombosis is uncommon. Pregnancy is a major risk factor for the development of this entity. We report the case of a patient with Job’s syndrome and protein C and S deficiency who developed cerebral venous sinus thrombosis and dural fistula at 36 weeks’ gestation. After heparinization, the treatment of choice, pregnancy termination to eliminate the prothrombotic status and embolization of the dural fistula were required to obtain complete remission of the neurological symptoms (AU)

Síndrome de Job asociado a linfoma de Hodgkin / Job’s syndrome associated with Hodgkin’s lymphoma

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Liquen erosivo de mucosas asociado a síndrome de hiperinmunoglobulina E y enfermedad celíaca / Erosive mucosal lichen associated to hyper IgE syndrome

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¿Es el neutrófilo una célula reguladora del eosinófilo en los procesos alérgicos mediados por la IgE? / Is the neutrophil leukocyte an eosinophil­ regulating cell in IgE- mediated allergic processes?

Aunque desde hace años se ha implicado al eosinófilo en la fisiopatología de los procesos alérgicos mediados por la lgE todavía no se conocen lo mecanismo exactos que atraen a esta células al órgano de choque del proceso atópico. Por una parte se habla de la propia presencia de lo tres receptores de la lgE (Fcel R, FccRII y galectina 3) en los eosinófilos de los pacientes alérgicos. pero si exite es mínima. Y por la otra no e ha podido activar a esos eosinófilo mediante un mecanismo mediado por la IgE. Pero el neutrófilo. que es una célula cuya participación en la respuesta alérgica es cada día más evidente, posee también los tres receptores de la IgE y. al contrario de lo que sucede en los eosinófilo . puede activarse a través de un mecanismo dependiente de la lgE como nuestro grupo ha demostrado en reiterada ocasiones. En este artículo comentamos como la activación mediada por la lgE de los neutrófilos puede modular la respuesta de los eosinófilos en los procesos atópicos (AU)

Even though the eosinophil has been implicated in the pathophysiology of IgE­mediated allergic processes for many a year. the precise mechanism that attract the e cells to the target organ of the aiopic proces are a yet unknown. Sorne author invoke the presence of the three lgE receptor (Fcalk. FccRII and gallectin 3) on the eosinophils of allergic patient ; yet, if so. such a presence is minimal. Furthermore. it ha not been posible to activate those eosinophil through an IgE­mediated mechanim. However, the neutrophil, a cell who e participation in the allergic repone i increasingly evident, al o possese the three IgE receptor and, to the contrary of what happen with the eosinophil. it can be activated through an IgE­mediated rnechanism, a our group has repeatedly hown. We here di cus how IgE­mediated neutrophil activation may modulate the repone of eosinophil in atopic procese (AU)

Cirugía reconstructiva en el síndrome de Job: a propósito de un caso / Reconstructive surgery in Job's syndrome: a case report

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Diagnosing the hyper-IgE syndrome: incidence of clinical features

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Caracterización clínica odontológica de las alteraciones en el sistema estomatológico de los pacientes con Síndrome de Hiperinmunoglobulinemia y con Infecciones Recurrentes (SHIEIR) / Clinical and odontologic characterization of the stomatologic alterations in patients with Hyperimmunoglobulinemia Sindrome and Recurrent Infection

Introducción: El Síndrome de hiperinmunoglobulinemia E con infecciones recurrentes (SHIEIR) es una compleja enfermedad de origen desconocido, que compromete el sistema inmune, el tejido conectivo, los huesos, la piel y el sistema estomatológico; en este último, solo se han descrito parcialmente las alteraciones presentes. Objetivo: El propósito de este estudio fue describir las principales características clínicas del sistema estomatológico de los pacientes afectados por el SHIEIR. Diseño del Estudio: Fueron evaluados 8 pacientes con diagnóstico de SHIEIR por medio de historia clínica odontológica, radiografías periapicales, panorámica, cefálica lateral y posteroanteriores, estudios fotográficos y modelos en yeso. Resultados: Se encontraron características patológicas comunes en el sistema estomatológico de estos pacientes: candidiasis oral (glositis romboidea mediana, queilitis angular y candidiasis seudomembranosa), caries, periodonto sano (infantes), periodontitis (adolescentes), retención de deciduos, retardo en el desarrollo de los gérmenes de los permanentes, erupción por lingual de los dientes antero inferiores, ángulo goníaco aumentando, paladar profundo, ausencias congénitas y dientes supernumerarios. Conclusiones: Se encontró que los pacientes con SHIEIR presentan alteraciones comunes en el sistema estomatológico, los cuales justifican realizar estudios más profundos en los campos clínicos, básicos y antropométricos, no solamente en los individuos afectados sino también en los familiares en primer grado; para tratar de establecer ligamientos genéticos que contribuyan a esclarecer el origen de esta enfermedad (AU)