Síndrome de hiperinmunoglobulinemia E: dermatitis atópica como manifestación inicial. A propósito de un caso / Hyper IgE syndrome: atopic dermatitis as first manifestation. Case report

La dermatitis atópica es la forma más frecuente de eccema durante el primer año de vida; sin embargo, cuando la presentación es atípica o se asocia a infecciones, constituye un desafío diagnóstico para el pediatra. Es importante mantener un índice alto de sospecha para detectar inmunodeficiencias primarias asociadas a eccemas graves desde el período neonatal. Un ejemplo de estas es el síndrome de hiperinmunoglobulinemia E (hiper-IgE) autosómico dominante. Este cuadro se caracteriza por la presencia de infecciones cutáneas y respiratorias recurrentes, dermatitis atópica, eosinofilia y aumento de IgE. Se reporta el caso clínico de una niña de 1 mes y 29 días con diagnóstico de hiper-IgE con afección cutánea desde el nacimiento.

Atopic dermatitis is the most common form of eczema often developed before the first year of life. Nevertheless, when the presentation is atypical or related to infections the diagnostic represents a challenge for the pediatricians. It is important to maintain a high index of suspicion for the detection of primary immunodeficiency associated to severe eczema. One of them is the autosomal dominant hyper-IgE syndrome characterized by recurrent skin and respiratory infections, atopic dermatitis, eosinophilia, and high serum IgE concentrations. In this paper, we report a 1 months and 29 days old baby girl diagnosed with hyper-IgE and a skin involvement since birth.

Oral and periodontal features of autosomal recessive syndromes: a tabular review / Características oral e periodontal de síndromes autossômicas recessivas: uma revisão tabular

Objective: To systematically review the data and results of case reports of autosomal recessive syndromes associated with periodontitis. Material and Methods: An internet search using Google and PubMed search engine and keywords- autosomal recessive, periodontitis, syndromes, periodontium and gingiva was carried out. Full-text articles in the English language of all the case reports and reviews that were published in journals from the year 1966 to 2016 were obtained and evaluated and presented in tabular form. Abstracts and articles published in other languages were not included in the review. Results: The data available from the clinical trials were analyzed and presented under broad headings of, systemic features, dental features, periodontal features and laboratory findings presented in tabular form. Conclusion: Many autosomal recessive syndromes with dental component also present with changes or alteration in the periodontium thus stressing the fact that thorough periodontal examination is important during the medical evaluation of patients with syndromes (AU)

Objetivo: Analisar sistematicamente os dados e resultados de relatos de caso de síndromes autossômicas recessivas associadas à periodontite. Material e Métodos: realizou-se uma pesquisa na internet usando os sites Google e PubMed com as palavras-chave: autossômica recessiva, periodontite, síndromes, periodonto e gengiva. Os critérios de inclusão foram restritos aos artigos em texto completo em língua inglesa, relatos de casos e revisões publicados em periódicos de 1966 a 2016. Resumos e artigos publicados em outras línguas não foram incluídos na revisão. Resultados: Os dados extraídos de cada estudo foram agrupados da seguinte forma: as síndromes associadas a características sistêmicas, aos achados dentários e aos achados periodontais, apresentados no formato de tabelas. Conclusões: Diversas síndromes autossômicas recessivas que apresentam alterações dentárias também podem apresentar alterações no periodonto, ressaltando assim, o fato de que o exame periodontal completo é importante durante a avaliação médica de pacientes com síndromes (AU)

The Influence of Grit on Turnover Intention of University Hospital Nurses: The Mediating Effect of Job Involvement / 간호학회지

PURPOSE: This study aimed to confirm the mediating effect of job involvement in the relationship between grit and turnover intention among nurses working at university hospitals. METHODS: Participants included 437 nurses from university hospitals located in C city, Gyeongnam. Data were collected from January 8 to 19, 2018, using self-report questionnaires. Data were analyzed using the t-test, analysis of variance, Scheffe's test, Pearson's correlation coefficient, and multiple regression, with the SPSS/22.0 program. A mediation analysis was performed according to the Baron and Kenny, and bootstrapping methods. RESULTS: There were significant relationships between grit and job involvement (r=.40, p<.001), grit and turnover intention (r=−.29, p<.001), and turnover intention and job involvement (r=−.52, p<.001). Job involvement showed partial mediating effects in the relationship between grit and turnover intention. CONCLUSION: Grit increased job involvement and lowered turnover intention. Therefore, to reduce nurses' turnover intention, it is necessary to develop a program and strategies to increase their grit.

Functional Defects in Type 3 Innate Lymphoid Cells and Classical Monocytes in a Patient with Hyper-IgE Syndrome

Hyper-IgE syndrome (HIES) is a very rare primary immune deficiency characterized by elevated serum IgE levels, recurrent bacterial infections, chronic dermatitis, and connective tissue abnormalities. Autosomal dominant (AD) HIES involves a mutation in signal transducer and activator of transcription 3 (STAT3) that leads to an impaired T(H)17 response. STAT3 signaling is also involved in the function of RORγt⁺ type 3 innate lymphoid cells (ILC3s) and RORγt⁺T(H)17 cells. The aim of this study was to investigate the role of innate immune cells such as innate lymphoid cells (ILCs), granulocytes, and monocytes in a patient with HIES. Peripheral blood mononuclear cells (PBMCs) from a patient with HIES and three age-matched healthy controls were obtained for the analysis of the innate and adaptive immune cells. The frequencies of ILCs in PBMCs were lower in the patient with HIES than in the controls. Moreover, granulocyte-macrophage colony-stimulating factor (GM-CSF) and IL-17A produced by ILC3s in PBMCs were lower in the patient with HIES than the controls. Compared with the controls, classical monocytes (CD14⁺CD16(low)), which have a high antimicrobial capability, were also lower in the patient with HIES, while non-classical monocytes (CD14(low)CD16⁺) as well as intermediate monocytes (CD14⁺CD16(intermediate)) were higher. Taken together, these results indicate that the impaired immune defense against pathogenic microbes in the patient with HIES might be partially explained by functional defects in ILC3s and inflammatory monocytes.

Hyper Immunoglobulin E Syndrome with Concomitant Folliculotropic Mycosis Fungoides in a Filipino child treated with Narrowband UVB Phototherapy: A case report

@#Hyper Immunoglobulin E Syndrome (HIES) is a primary immunodeficiency disorder characterized by the classic triad of recurrent staphylococcal abscesses, frequent airway infections, and increased serum immunoglobulin E. It is now widely accepted as a multisystem disorder with involvement of the skeletal, connective tissue, dental, and vascular systems. Lymphoma has been reported to occur at an increased frequency. Follicu-lotropic mycosis fungoides (FMF) is a rare variant of cutaneous T-cell lymphoma in which the neoplastic T lymphocytes display tropism for the follicular epithelium. We report a case of a 14-year old Filipino male with the classic type of HIES presenting with severe eczema associated with intractable pruritus, recurrent respiratory tract infections, cold abscesses, and a serum IgE of 9,350 IU/ml. Skin biopsy also revealed findings consistent with FMF. Narrowband UVB (NB-UVB) phototherapy was initiated three times a week with continuation of supportive medication. Patient reported significant relief of pruritus and gradual improvement of eczematous lesions after one month.

Síndrome de hiper IgE autosómico dominante / Autosomal dominant hyper IgE síndrome

El síndrome hiper IgE autosómico dominante es una inmunodeficiencia primaria poco frecuente que se caracteriza por niveles elevados de IgE, dermatitis eccematoide, infecciones recurrentes de piel y pulmón, y formación de abscesos con escasos signos inflamatorios. También se presentan alteraciones dentarias, esqueléticas y del tejido conjuntivo. Es causado por mutaciones dominantes del gen que codifica la proteína transductora de señal y activadora de la transcripción 3 (STAT3). Esta mutación condiciona un déficit en la generación de células Th17 a partir de células T CD4+, que explica la susceptibilidad de estos pacientes a infecciones por S aureus y C albi cans. Se presenta una adolescente con puente nasal amplio, paladar ojival, hiperlaxitud, fracturas patológicas, escoliosis y retraso en la caída de la dentadura primaria, rash eccematoso desde el período neonatal, infecciones cutáneas, óticas, pulmonares y candidiasis mucocutánea. Se detectan niveles elevados de IgE sérica y eosinofilia. Ha sido tratada con antimicrobianos y tópicos, con seguimiento de más de 10 años. Este síndrome es una entidad infrecuente, de causa genética, que requiere alto grado de sospecha y del manejo precoz de las infecciones.

Autosomal dominant hyper IgE syndrome is a rare primary immunodeficiency characterized by elevated levels of IgE, eczematoid dermatitis, recurrent infections of skin and lung and abscess formation with few inflammatory signs. Dental, skeletal and connective tissue disorders are also present. It is caused by dominant mutations of the gene encoding the protein signal transducer and activator of transcription 3 (STAT3) . This mutation deficit conditions in generating Th17 cells from CD4 + T cells which explains the special susceptibility of these patients to infection by S. aureus and Candida albicans. A teenager patient is presented, broad nasal bridge, arched palate, hypermobility, pathological fractures, scoliosis and fall of primary teeth delayed, eczematous rash from neonatal lung, skin infections, ear and mucocutáneous candidiasis. High levels of Ig E serum and eosinophilia were detected. The patient was treated with antibiotics and topical, tracking over 10 years. Conclusions: This syndrome is a rare condition, genetic causes require high degree of suspicion and early management of infections.

Síndrome de hiper IgE, una enfermedad poco frecuente en edad adulta: Reporte de un caso / Hyper-immunoglobulin E syndrome: Report of one case

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.

Síndrome de hiperinmunoglobulinemia E: revisión de la casuística con énfasis en las manifestaciones orofaciales / Hyperimmunoglobulinemia E syndrome: a review of the literature with emphasis on orofacial manifestations

El síndrome de Hiper EgE (SHIE) es una rara inmunodeficiencia caracterizada por abscesos cutáneos, neumonías recurrentes, conformación de neumatoceles y elevados niveles de IgE en suero. Se ha reconocido la asociación de rasgos faciales, esqueléticos y dentales, pero su frecuencia es poco conocida. Objetivo: describir la epidemiología, presentación clínica, hallazgos de laboratorio y tratamiento de este síndrome desde el punto de vista médico y odontológico, con énfasis en las manifestaciones estomatológicas y dentales. Métodos. Métodos: realizamos una revisión científica sistemática de todos los reporte y series de casos de SHIE en las bases de datos Lilacs, Medline, SciELO y Biblioteca Cochrane, utilizando como descriptores DeCS/MeSH las palabras claves: hyper IgE AND immunodeficiency, hypereosinophilia, Job´s syndrome, hiperinmunoglobulinemia E. Resultados: revisamos 31 publicaciones con 328 pacientes. Los abscesos cutáneos se encontraron en 89 pior ciento de los casos, la neumonía en el 87 por ciento y la IgE sérica dio una mediana de 3.417 Ul/mL. Los rasgos faciales característicos estuvieron en el 69 por ciento, las alteraciones dentarias en 58 por ciento y la candidiasis oral fue reportada en 53 por ciento de los pacientes. Conclusión: el síndrome de IgE es un desorden multisistémico que afecta a la dentición, el esqueleto, el tejido conectivo y el sistema inmune. Por esto, el odontopediatra debe ser capaz de reconocer el fenotipo orofacial para mejorar la calidad del diagnóstico y brindar el abordaje terapéutico apropiado...

Síndrome de Job asociado a tuberculosis miliar

El síndrome de hiper IgE también denominado síndrome de Job, es una inmunodeficiencia primaria poco frecuente, cuyo modo de herencia puede ser autosómico recesivo o dominante. Se caracteriza por altos niveles de IgE, eosinofilia, abscesos cutáneos, eccema, candidiasis mucocutánea crónica e infecciones pulmonares recidivantes que contribuyen al desarrollo de neumatoceles y bronquiectasias. El germen más frecuentemente aislado es el Staphylococcus aureus. En la actualidad, ante la mayor supervivencia de los pacientes se han comunicado infecciones oportunistas y linfomas. Existen escasas publicaciones de pacientes con enfermedad por Mycobacterium tuberculosis asociada a síndrome de hiper IgE, por lo que consideramos relevante comunicar el caso de un paciente con antecedentes de una tuberculosis pulmonar, que presentó una tuberculosis miliar con grave compromiso respiratorio, con buena respuesta al tratamiento estándar con drogas de primera línea.

The hyper Immunoglobulin E syndrome, also known as Job´s syndrome, is a rare primary immunodeficiency, its mechanisms of inheritance maybe recessive or dominant autosomal. It is characterized by high levels of IgE, eosinophilia, skin abscesses, eczema, chronic mucocutaneous candidiasis and recurrent pulmonary infections all of which contribute to the development of pneumatoceles and bronchiectasis. The most frequently isolated bacteria is Staphylococcus aureus. Currently, despite the highest survival of patients, lymphomas and other opportunistic infections have been reported. There are few reports of patients with Mycobacterium tuberculosis infection associated with hyper IgE syndrome. Therefore it is relevant that we report a case history of a patient with pulmonary tuberculosis, presenting miliary tuberculosis and severe respiratory compromise, who responded positively to standard anti-tuberculous treatment with first line drugs.

Síndrome hiper IGE: a propósito de tres casos clínicos / Hyper IGE syndrome: three case reports

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.

Do you know this syndrome? / Voce conhece esta sindrome?

The hyperimmunoglobulin E syndrome, or Job's syndrome is a rare primary immunodeficiency characterized by recurrent skin abscesses, recurrent respiratory tract infections, and high levels of IgE, eosinophilia, bone and dental changes. We report the case of a fourteen-year-old male patient presenting this disease, with both typical and also some relatively sporadic manifestations. We performed a literature review on the syndrome and its associated clinical findings.

A síndrome de hiperimunoglobulinemia E, ou síndrome de Job é uma imunodeficiência primária rara, caracterizada por abcessos cutâneos recorrentes, infecções de repetição do trato respiratório, títulos elevados de IgE, eosinofilia, alterações ósseas e dentárias. Relata-se o caso de um paciente do sexo masculino, 14 anos, portador da doença, com manifestações desde típicas a algumas relativamente esporádicas, fazendo-se uma revisão da síndrome e dos achados clínicos associados.

Do you know this syndrome? / Você conhece esta síndrome?

The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung. The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on the back and trunk is described. The diagnosis of the Bourneville-Pringle syndrome is based on clinical criteria. Presence of two major criteria, such as facial angiofibromas, forehead fibrous plaques, three or more hypomelanotic macules establish the definitive diagnosis. The diagnosis should be made as early as possible in order to assess and treat the associated complications. .

A Síndrome de Bourneville-Pringle é desordem neurocutânea autossômica dominante caracterizada pelo desenvolvimento de hamartomas múltiplos em vários locais do corpo, especialmente cérebro, pele, retina, rim, coração e pulmão. Descreve-se caso de paciente com placas acastanhadas na fronte e região temporal, pápulas róseas na região malar e mento e máculas hipocrômicas no dorso e tronco. O diagnóstico da síndrome Bourneville-Pringle é baseado em critérios clínicos. Presença de dois critérios maiores, como angiofibromas faciais, placas fibrosas frontais e 3 ou mais máculas hipomelanóticas estabelecem o diagnóstico definitivo. Devese fazer o diagnóstico o mais precocemente possível para que as complicações associadas sejam avaliadas e tratadas. .

Prevalence of Primary Immunodeficiency in Korea

This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152 patients with PID (under 19 yr of age), who were observed from 2001 to 2005, have been entered in this registry. The period prevalence of PID in Korea in 2005 is 11.25 per million children. The following frequencies were found: antibody deficiencies, 53.3% (n = 81), phagocytic disorders, 28.9% (n = 44); combined immunodeficiencies, 13.2% (n = 20); and T cell deficiencies, 4.6% (n = 7). Congenital agammaglobulinemia (n = 21) and selective IgA deficiency (n = 21) were the most frequently reported antibody deficiency. Other reported deficiencies were common variable immunodeficiencies (n = 16), X-linked agammaglobulinemia (n = 15), IgG subclass deficiency (n = 4). Phagocytic disorder was mostly chronic granulomatous disease. A small number of patients with Wiskott-Aldrich syndrome, hyper-IgE syndrome, and severe combined immunodeficiency were also registered. Overall, the most common first manifestation was pneumonia. This study provides data that permit a more accurate estimation PID patients in Korea.

Anestesia em paciente com Síndrome de Jó (hiper IgE): Relato de caso / Anesthesia in a patient with Job's Syndrome (hyper IgE): Case report / Anestesia en paciente con el Síndrome de Job (hiper IgE): Relato de caso

JUSTIFICATIVA E OBJETIVOS: A síndrome de Jó (SJ) é imunodeficiência rara, uma das formas de apresentação da Síndrome hiper IgE. O quadro clínico compreende abscessos cutâneos, pneumonias de repetição, pneumatoceles, eosinofilia, hiperimunoglobulinemia E (> 2.000 UI.mL-1), alterações craniofaciais e de crescimento ósseo. O relato descreve a doença e seu manuseio anestésico. RELATO DO CASO: Paciente masculino, negro, 13 anos, 40 kg, ASA II, com Síndrome de Jó diagnosticada aos 6 meses. Foi admitido para realização de alongamento de fêmur direito. Negava uso de medicamentos e não tinha antecedentes cirúrgicos, boa mobilidade cervical, distância interincisivos superior a 3 cm, Mallampati II e sem sinais de infecção. Os exames pré-operatórios eram normais. Foi monitorado com eletrocardioscópio, SpO2, PANI e P ET CO2. Após pré-oxigenação, realizou-se indução de anestesia geral venosa e manutenção com sevoflurano. Ao término do procedimento, o paciente foi extubado após reversão do bloqueio neuromuscular e encaminhado para a sala de RPA com Aldrete 9. Teve alta hospitalar após 72 horas, sem complicações. CONCLUSÕES: A opção da técnica anestésica é orientada pela observação criteriosa entre os riscos e benefícios específicos para cada paciente, de acordo com as sequelas respiratórias e o risco de infecção e sítio cirúrgico. No paciente em questão, havia a consideração de que a anestesia em neuroeixo poderia representar, pela predisposição de base imunológica, risco aumentado de infecções graves. O presente caso foi realizado de forma segura com anestesia geral.

BACKGROUND AND OBJECTIVES: Job's syndrome (JS), one of the presentations of the Hyper IgE Syndrome, is a rare immunodeficiency. It includes cutaneous abscesses, recurring pneumonias, pneumatoceles, eosinophilia, hyperimmunoglobulinemia E (> 2,000 IU.mL-1), and craniofacial and bone growth changes. This report describes the disease and its anesthetic management. CASE REPORT: The patient is a 13 year old black male, 40 kg, ASA II, with Job's Syndrome diagnosed 6 months prior to this admission. The patient was admitted for elongation of the right femur. He denied use of drugs and prior surgeries; he presented good cervical mobility, interincisive distance greater than 3 cm, Mallampati II, without signs of infection. Preoperative exams were within normal limits. He was monitored with electrocardioscope, SpO2, non-invasive blood pressure, and P ET CO2. After pre-oxygenation, general anesthesia was induced and he was maintained with sevoflurane. At the end of the procedure, the patient was extubated after reversal of the neuromuscular blockade, and the patient was transferred to the PACU with Aldrete 9, He was discharged from the hospital 72 hours later, without complications. CONCLUSIONS: The choice of anesthetic technique is guided by rigorous observation among risks and benefits for each patient, according to respiratory sequelae, risk of infection, and surgical site. In the patient described here, we considered that neuroaxis anesthesia could be associated with an increased risk of severe infections due to the patient immunologic background. The procedure was safely performed with general anesthesia.

JUSTIFICATIVA Y OBJETIVOS: El síndrome de Job (SJ) es una inmunodeficiencia rara, una de las formas de presentación del Síndrome hiper IgE. El cuadro clínico comprende abscesos cutáneos, neumonías de repetición, neumatoceles, eosinofilia, hiperinmunoglobulinemia E (> 2.000 UI.mL-1), alteraciones craneofaciales y de crecimiento óseo. El relato describe la enfermedad y su manejo anestésico. RELATO DEL CASO: Paciente masculino, negro, de 13 años, 40 kg, ASA II, con el Síndrome de Job diagnosticado a los 6 meses. Se le admitió para la realización de estiramiento del fémur derecho. Negaba el uso de medicamentos y no tenía antecedentes quirúrgicos, una buena movilidad cervical, una distancia interincisivos superior a los 3 cm, Mallampati II y tampoco tenía señales de infección. Los exámenes preoperatorios fueron normales. Fue monitorizado con electrocardioscopio, SpO2, PANI y PETCO2. Después de la preoxigenación se procedió a la inducción de anestesia general venosa y al mantenimiento con sevoflurano. Al finalizar el procedimiento, el paciente fue extubado después de la reversión del bloqueo neuromuscular y fue derivado a la sala de RPA con Aldrete 9. Tuvo su alta a las 72 horas, sin complicaciones. CONCLUSIONES: La opción de la técnica anestésica está orientada por la observación de un riguroso criterio entre los riesgos y beneficios específicos para cada paciente, de acuerdo con las secuelas respiratorias y con el riesgo de infección y el sitio quirúrgico. En el paciente en cuestión, se consideraba que la anestesia en el neuro eje podría representar, por la predisposición de base inmunológica, un riesgo aumentado de infecciones graves. El presente caso fue realizado de forma segura con anestesia general.

Síndrome de hiper IgE (HIES): criterios de atención odontológica / Hiper IgE syndrome (HIES): criteria for dental care

El síndrome de Hiper IgE o hiperinmunoglobulinemia E por infección recurrente es una enfermedad rara, descripta inicialmente por JOb Buckey en 1966. Su diagnóstico se realiza a través de la tríada: *)eosinofilia y elevados niveles de IgE, *) eczema e infecciones recurrentes de piel y *) aparato respiratorio (pulmones). Tiene dos variantes: tipo 1 o autosómica y tipo 2 o autosómica recesiva. PUedepresentar facies características y alteraciones óseas y dentales. Son pacientes que requieren terapias prolongadas con antibióticos para evitar las infecciones respiratorias. La importancia de la atención odontológica radica en mantener una boca saludable para evitar focos sépticos que pongan en riesgo la vida del paciente.

A case of Hyper-IgE syndrome with a mutation of the STAT3 gene / 소아과

Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene (stat3) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent skin and respiratory tract infections, such as pneumonia caused by MRSA (methicillin-resistant Staphylococcus aureus) and Pseudomonas aeruginosa. On physical examination, a broad round shaped nose, oral thrush, and chronic eczematous skin rash over her whole body were found. Laboratory data showed an elevated eosinophil count (750/microliter) and total IgE level (5,001 U/mL). The patient's National Institutes of Health (NIH) score for HIES was 44. Direct sequencing of the STAT3 gene revealed that the patient was heterozygous for a missense mutation in the DNA binding domain of the STAT3 protein (c.1144C>T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis.