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.

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.

Mutation analysis of the STAT3 gene in a patient with hyper-IgE syndrome / 中华皮肤科杂志

Objective To analyze mutations of the STAT3 gene in a patient with hyper-IgE svudrome (HIES) mainly manifesting as multiple cold abscesses.Methods Clinical data were collected and blood samples were obtained from a 17-year-old male patient with HIES and his parents.Genomic DNA was extracted and subjected to PCR for the amplification of the entire coding region and splice sites of the STAT3 gene followed by bidirectional sequencing.Results A heterozygous missense mutation C1427T,which caused a codon change from TCC to TTC and resulted in the substitution of serine by phenylalanine at amino acid residue 476 (p.S476F), was found in exon 16 encoding the DNA-binding domain in the STAT3 gene in the patient, but not in either of his parents.The results of amplified ribosomal DNA restriction analysis were consistent with the findings mentioned above.Conclusion A novel missense mutation S426F was found in the STAT3 gene in the HIES patient with generalized cold abscesses as the prominent clinical manifestation.

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.

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.

Mutation analysis of the STAT3 gene in a patient with hyper-IgE syndrome / 中华皮肤科杂志

Objective To analyze mutations of the STAT3 gene in a patient with hyper-IgE syndrome (HIES).Methods Clinical data were collected and blood samples were obtained from a 14-year-old patient with hyper-IgE syndrome (HIES) and her parents.Genomic DNA was extracted and subjected to PCR for the amplification of the entire encoding and splice sites of the STAT3 gene followed by bidirectional sequencing.Meanwhile,amplified ribosomal DNA restriction analysis was carried out.Results A heterozygous missense mutation A1843G,which caused a K615E substitution,was found in exon 19 encoding the SH2 domain of the STAT3 gene in the patient,but not in either of her parents.The result of amplified ribosomal DNA restriction analysis was consistent with the findings mentioned above.Conclusion The novel K615E missense mutation in the STAT3 gene may contribute to the development of HIES.

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 hiperinmunoglobulinemia E: Reporte de dos casos / Hyperimmunoglobulin E syndrome: report of two cases

Introducción. El síndrome de hiperinmunoglobulinemia E es una inmunodeficiencia sistémica poco frecuente, caracterizada por dermatitis eccematosa, abscesos fríos recurrentes, infecciones pulmonares con formación de neumatoceles, facies tosca, niveles elevados de inmunoglobulina E (IgE) en suero y eosinofilia. Casos clínicos. Caso 1. Femenino de 11 años de edad con antecedentes de neumonía recurrente, gastroenteritis de repetición, dermatitis eccematosa de predominio en pliegues, y abscesos fríos; en estudios de laboratorio destacó el hallazgo de 16 070 eosinófilos e IgE de 4 864 Ul. Manejada con gammaglobulina se observó buena respuesta clínica. Caso 2. Femenino de 12 años de edad con historia de otitis recurrente y conjuntivitis supurativa, presentaba eccema crónico generalizado e impetiginizado. En estudios de laboratorio se reportó IgE de 3 000 UI; fue manejada con dapsona, trimetropim/sulfametoxazol y metotrexate. Conclusión. Los 2 casos aquí informados presentaron piel eccematosa, infecciones recurrentes e incremento de los niveles de IgE, compatibles con síndrome de hiperinmunoglobulinemia E en la forma autosómica recesiva.

Background. Hyperimmunoglobulin E syndrome is a rare systemic immunodeficiency characterized by eczematous dermatitis, recurrent cold abscesses, lung infections with pneumatoceles, coarse facial appearance, high IgE levels and eosinophilia. Case reports. Case 1: We report the case of an 11-year-old female with a history of recurrent lung infections, recurrent gastroenteritis, eczematous dermatitis affecting the skin folds and cold abscesses. Laboratory studies showed elevated eosinophils (16 070) and IgE 4864 IU. The patient received treatment with g-globulin, showing adequate clinic response to treatment. Case 2: We present the case of a 12-year-old female with a history of recurrent otitis and suppurative conjunctivitis, showing widespread and chronic infected eczema. Laboratory studies showed elevated IgE (3 000 IU). She was treated with dapsone, trimethoprim/sulfamethoxazole and methotrexate. Conclusions. We presented two patients with eczematous skin, recurrent infections and increased IgE levels, which are compatible with hyperimmunoglobulin E autosomal recessive syndrome.

Ophthalmic complications including retinal detachment in hyperimmunoglobulinemia E (Job's) syndrome: Case report and review of literature.

Hyperimmunoglobulinemia E (Job's) syndrome is characterized by markedly increased levels of immunoglobulin E, recurrent cutaneous and systemic pyogenic infections, atopic dermatitis, and peripheral eosinophilia. Although ocular involvement in Job's syndrome is rare, there are reports of keratoconus, staphylococcal chalazia with blepharitis, and Candida endophthalmitis by various authors. We present the first case report of retinal detachment with complicated cataract in Job's syndrome.

Pulmonary Features of Hyperimmunoglobulin E (Job's)syndrome / 결핵

Hyperimmunoglobulin E syndrome, otherwise known as Job's syndrome, is an immune disorder characterized by an abnormal elevation of the circulating immunoglobulin E level, and recurrent infections of the skin and sinopulmo nar tract. The syndrome has various ppulmonary featurea, e.g., pneumonia, pneumatocele, pneumothorax, lung abscesses and empyema. We report a case of hyperimmunoglobulin E syndrome, with various respiratory clinical manifestation. Medical therapy, including prophylactic antibiotics, has been the cornerstone for the treatment of hyperimmunoglobulin E syndrome. Even if surgical intervention is required, minimal pulmonary parenchymal resection is recommended.

A Case of Job's Syndrome / 대한피부과학회지

The Job's syndrome is a relatively rare primary immunodeficiency disorder characterized by recurrent staphylococcal infection and abscess formation, defective neutrophil chemotaxis, and markedly elevated serum IgE level. Clinical features are atopiclike dermatitis, furunculosis, paronychia, pulmonary bacterial pneumonia etc. We reported a case of Job's syndrome in a 12-year-old girl who had recurrent pneumonia, scaly pruritic dermatitis, fissured tongue, and nail dystrophy with elevated serum IgE level.

Job's Syndrome: Suspected Case / 대한피부과학회지

Job's syndrome is an inflammatory skin disease characterized by (1) severe eczema, (2) recurrent staphylococcal infections of the skin and sinopulmonary tract, (3) cold subcutaneous abscesses, and (4) high serum IgE levels. We describe a 55-year-old woman with long-standing atopic dermatitis-like eczema, recurrent abscesses, and a high level of serum IgE. We suspected this case as Job's syndrome.

A Case of Job Syndrome-Experience with Thymopentin / 소아알레르기및호흡기학회지

The Job syndrome is a primary immunodeficiency disorder characterized by markedly elevated serum IgE levels, recurrent severe infections of the skin and sinoplmonary tract, including staphylococcal pneumonias, chronic eczematoid dermatitis, coarse facial features, and mild eosinophilia. In 1966, Davis et al discribed two patients with severe eczema, chroic sinopulmonary infections, and recurrent staphylococcal abscesses originally. The reason for immunocompromise in the Job syndrome remains unclear, but a chemotactic defect in neutrophils has been described. We have experienced a case of Job syndrome in a 9-year-old girl who had suffered from severe recurrent multiple infections since 2 month of age. After treatment with thymopentin, she was improved clinically. A brief review of related literature is presented.