Espondiloencondrodisplasia con desregulación inmune relacionada a ACP5. Reporte de cuatro casos / Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases

La espondiloencondrodisplasia con desregulación inmune relacionada a ACP5 (SPENCDI #607944, por la sigla de spondyloenchondrodysplasia with immune dysregulation y el número que le corresponde en OMIM, Online Mendelian Inheritance in Man) es una displasia inmuno-ósea poco frecuente con manifestaciones heterogéneas y gravedad variable. Presenta lesiones espondilometafisarias, disfunción inmune y compromiso neurológico. Se reportan aspectos clínicos, radiológicos y genéticos de cuatro niñas con SPENCDI en un hospital pediátrico. Todas presentaron manifestaciones esqueléticas y tres de ellas enfermedad inmunológica grave. Se encontró en tres pacientes la variante probablemente patogénica c.791T>A; p.Met264Lys en homocigosis, y en una paciente las variantes c.791T>A; p.Met264Lys y c.632T>C; p.lle211Thr (variante de significado incierto con predicción patogénica según algoritmos bioinformáticos) en heterocigosis compuesta en ACP5. La presencia de la variante repetida c.791T>A sugiere la posibilidad de un ancestro en común en nuestra población. El reconocimiento y diagnóstico de esta entidad es importante para lograr un oportuno abordaje, que deberá ser multidisciplinario, orientado hacia la prevención de posibles complicaciones.

Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.

Inmunodeficiencias en contexto de infección por SARS-CoV-2 / Immunodeficiencies in the context of SARS-CoV-2 infection

SARS-CoV-2 infection in the people has been characterized by great variability in the clinical manifestations, ranging from an asymptomatic infection in some individuals to a fatal disease in others. Recently, the importance of human genetics in determining clinical response has been highlighted. Within this context there are patients who don't become infected despite viral exposure and others who, being young without comorbidities, develop a severe disease.On the other hand, it's under constant investigation whether the presence of a concomitant primary or secondary immunodeficiency determines a different clinical course. (AU)

Deficiencia de anticuerpos específicos en pacientes pediátricos con infecciones respiratorias recurrentes / Specific antibody deficiency in pediatric patients with recurrent respiratory infections

One of the most frequent consultations in pediatric immunology corresponds to patients with recurrent respiratory infections. The most frequent clinical conditions for what they consult are recurrent viral infections, recurrent acute otitis media, recurrent sinusitis and recurrent pneumonia. Approximately 10% of patients who consult for these conditions may have a specific antibody deficiency. Specific antibody deficiency is a type of primary immunodeficiency, which is classified within the humoral deficit group, where there is a failure in the immune response for polysaccharide antigens with normal immunoglobulin levels. The diagnosis must be made since 2 years old, when the immune system acquires the ability to present a humoral response to polysaccharide antigens. In an undetermined percentage of patients, the specific antibody deficit can be resolved with the maturity of the immune system and there are patients who require prolonged treatment with antibiotic prophylaxis and gamma globulin.

Una de las consultas más frecuentes en inmunología pediátrica corresponde a pacientes con infecciones respiratorias recurrentes. Los cuadros clínicos más frecuentes por lo que consultan son infecciones virales recurrentes, otitis media aguda recurrente, sinusitis recurrente y neumonía recurrente. Aproximadamente el 10% de los pacientes que consultan por estos cuadros puede presentar una deficiencia de anticuerpos específica. La deficiencia anticuerpo específica es un tipo de inmunodeficiencia primaria, que se clasifica dentro del grupo de déficit humorales, en donde existe una falla en la respuesta inmune para antígenos polisacáridos con niveles de inmunoglobulinas normales. El diagnóstico se debe realizar después de los 2 años que es cuando el sistema inmune adquiere la capacidad de presentar respuesta humoral a antígenos polisacáridos. En un porcentaje no determinado de pacientes, el déficit de anticuerpos específicos se puede resolver con la madurez del sistema inmunológico y existen pacientes que requieren tratamiento prolongado con profilaxis antibiótica y gamaglobulina.

Repercussions of inborn errors of immunity on growth / Repercussões dos erros inatos da imunidade sobre o crescimento

Abstract Objectives: This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the identification of the different causes of growth disorders in patients with inborn errors of immunity, which can help in their treatment. Data sources: Non-systematic review of the literature, searching articles since 2000 in PubMed with the terms "growth", "growth disorders", "failure to thrive", or "short stature" AND "immunologic deficiency syndromes", "immune deficiency disease", or "immune deficiency" NOT HIV. The Online Mendelian Inheritance in Man (OMIN) database was searched for immunodeficiencies and short stature or failure to thrive. Data summary: Inborn errors of immunity can affect growth in different ways, and some of them can change growth through multiple simultaneous mechanisms: genetic syndromes; disorders of the osteoarticular system; disorders of the endocrine system; reduction in caloric intake; catabolic processes; loss of nutrients; and inflammatory and/or infectious conditions. Conclusions: The type of inborn errors of immunity allows anticipating what type of growth disorder can be expected. The type of growth disorder can help in the diagnosis of clinical conditions related to inborn errors of immunity. In many inborn errors of immunity, the causes of poor growth are mixed, involving more than one factor. In many cases, impaired growth can be adjusted with proper inborn errors of immunity treatment or proper approach to the mechanism of growth impairment.

Resumo Objetivos: Revisão da literatura sobre as repercussões dos diferentes erros inatos da imunidade sobre o crescimento, chamar a atenção para o diagnóstico desse grupo de doenças em pacientes que apresentem desordens do crescimento, assim como permitir que se identifiquem as diferentes causas de alterações do crescimento em pacientes com erros inatos da imunidade, o que pode auxiliar em seu manejo. Fonte dos dados: Revisão não sistemática da literatura, com busca de artigos desde 2000 no Pubmed com os termos "growth" ou "growth disorders" ou "failure to thrive" ou "short stature" AND "immunologic deficiency syndromes" ou "immune deficiency disease" ou "imune deficiency" NOT HIV. E buscas na base OMIN (Online Mendelian Inheritance in Man) por imunodeficiências e baixa estatura ou falha no crescimento ("failure to thrive"). Síntese dos dados: Há diferentes modos pelos quais os erros inatos da imunidade podem afetar o crescimento e alguns deles podem alterar o crescimento por múltiplos mecanismos simultâneos: síndromes genéticas; afecções do aparelho osteoarticular; afecções do sistema endócrino; redução de aporte calórico; processos catabólicos: perda de nutrientes, assim como afecções inflamatórias e/ou infecciosas. Conclusões: O tipo de erros inatos da imunidade permite prever que tipo de alteração no crescimento devemos esperar. O tipo de alteração no crescimento pode auxiliar no diagnóstico de condições clínicas associadas aos erros inatos da imunidade. Em muitos erros inatos da imunidade, as causas do crescimento deficiente são mistas, envolvem mais de um fator. Em muitos casos, o prejuízo do crescimento pode ser corrigido com o adequado tratamento dos erros inatos da imunidade ou adequada abordagem do mecanismo que causa o prejuízo do crescimento.

Deficiencia de anticuerpos específicos: inmunodeficiencia primaria asociada a alergia respiratoria / Specific antibody deficiency: primary immunodeficiency associated to respiratory allergy

La deficiencia de anticuerpos específicos con inmunoglobulinas séricas y linfocitos B normales (SAD) es una inmunodeficiencia primaria caracterizada por una capacidad alterada de responder a antígenos específicos, especialmente polisacáridos. OBJETIVO: Describir las características clínicas de pacientes con SAD y destacar la asociación entre una inmunodeficiencia primaria y enfermedades alérgicas. Pacientes y Método: Estudio descriptivo en enfermos con SAD atendidos en un hospital público entre agosto de 2007 y julio de 2015. Se descartó otra inmunodeficiencia primaria o secundaria. El diagnóstico se basó en infecciones recurrentes y una respuesta anormal a la vacuna neumocócica polisacárida con medición de IgG específica para 10 serotipos de neumococo. RESULTADOS: Se incluyeron 12 pacientes, 4 varones, con una edad promedio de 6 años; predominaron las neumonías recurrentes (91,7%) y otras infecciones respiratorias e invasivas. Los 12 enfermos con SAD tenían asma asociada; 11, rinitis alérgica y otras alergias. Tres pacientes no respondieron a ninguno de los 10 serotipos contenidos en la vacuna neumocócica polisacárida y la mayoría de los que lo hicieron fue a títulos bajos. El tratamiento con vacuna neumocócica conjugada fue favorable en 11/12 enfermos. CONCLUSIÓN: En niños mayores de 2 años con infecciones respiratorias recurrentes o infecciones invasivas por S. pneumoniae con inmunoglobulinas normales recomendamos investigar SAD, más aún si tienen enfermedad alérgica asociada.

Specific antibody deficiency (SAD) with normal immunoglobulin and normal B cells is a primary immunodeficiency characterized by reduced ability to produce antibodies to specific antigens especially polysaccharides. OBJECTIVE: To describe the characteristics of patients diagnosed with SAD emphasizing the association between primary immunodeficiency and allergic diseases. PATIENTS AND METHOD: Descriptive study showing patients with SAD treated at a public hospital between August 2007 and July 2015. Other secondary or primary immunodeficiency was discarded. The diagnosis of SAD was based on recurrent infections and abnormal response to pneumococcal polysaccharide vaccine assessed by specific IgG to 10 pneumococcal serotypes. Results: Twelve patients were included, 4 males, mean age 6 years, recurrent pneumonia predominated (91.7%) as well as other respiratory and invasive infections. All patients with SAD had associated asthma, 11 had allergic rhinitis, and other allergies. Three patients did not respond to any of the 10 serotypes contained in pneumococcal polysaccharide vaccine, and those who responded were with low titers. Treatment with conjugate pneumococcal vaccine was favorable in 11/12 patients. CONCLUSION: In children older than 2 years with recurrent respiratory infections or invasive S. pneumoniae infections with normal immunoglobulin we recommend to investigate SAD, especially if they have a concurrent allergic disease.

The Association between Asthma and Invasive Pneumococcal Disease: A Nationwide Study in Korea

The purpose of this study was to investigate the association between asthma and invasive pneumococcal disease (IPD) in Korea. A retrospective population-based cohort study was conducted using the Korean Health Insurance Review and Assessment database 2010-2011. The subjects included 935,106 (2010) and 952,295 (2011), of whom 398 (2010) and 428 (2011) patients with IPD were identified. There was significant difference in the prevalence of IPD in patients with and without asthma (0.07% vs. 0.02% in 2010 and 0.08% vs. 0.01% in 2011; P<0.001). After adjusting for age and gender, patients with asthma showed over a three-fold increased risk of IPD compared with patients without asthma (adjusted odds ratio [aOR] 3.90, 95% confidence interval [CI] 3.02-5.03 in 2010 / aOR, 5.44; 95% CI, 4.10-7.22 in 2011; P<0.001). These findings were also significant in children (aOR, 2.08; 95% CI, 1.25-3.45 in 2010; P=0.005 / aOR, 3.26; 95% CI, 1.74-6.11 in 2011; P<0.001). Although diabetes mellitus was also significantly associated with IPD, relatively low ORs compared with those of asthma were noted (aOR, 1.85; 95% CI, 1.35-2.54 in 2010 / aOR, 2.40; 95% CI, 1.78-3.24 in 2011; P<0.001). Both children and adults with asthma are at increased risk of developing IPD.

Inmunodeficiencia combinada con compromiso cutáneo asociada a mutación en DOCK8 / Combined immunodeficiency with cutaneous manifestations associated with DOCK8 mutation

Diferentes inmunodeficiencias primarias se caracterizan por niveles elevados de IgE e infecciones cutáneas de origen viral. Describimos el caso de un niño de 2 años y 8 meses de edad, con inmunodeficiencia combinada, dermatitis y molusco contagioso diseminado. El paciente presentaba niveles aumentados de IgE, eosinofilia y marcada linfopenia a predominio de TCD8. Se encontraron alteraciones en los ensayos funcionales por cultivo y en la respuesta a la vacunación. Resultados normales de la proteína ZAP-70, funcionalidad NK y niveles de HLA I, tendientes a verificar alteraciones cuantitativas y funcionales de las células citotóxicas, llevaron a la sospecha de deficiencia en el gen DOCK8. El resultado positivo del estudio molecular, junto con las características clínicas e inmunológicas del paciente, confirmaron el diagnóstico de esta nueva inmunodeficiencia, que, de acuerdo con nuestro conocimiento, sería el primer caso diagnosticado en un hospital pediátrico en nuestro país.

Different primary immunodeficiencies present increased levels of IgE and cutaneous infections of viral etiology. We report a case of a 2 y, 8 m old boy with combined immunodeficiency, dermatitis and disseminated molluscum contagiosum. The patient presented high titers of IgE, eosinophilia and pronounced TCD8 lymphopenia. Impaired proliferation assays and abnormal antibody response to vaccination were found. Normal results of ZAP-70 protein, NK function, and HLA I levels, to test quantitatives and functional defects of cytotoxic cells, lead us to suspect a mutation in DOCK8 gene. Positive result in molecular study together with clinical and immunology features in the patient confirmed the diagnosis of this new immunodeficiency, being to the authors ́ knowledge the first case recorded in a paediatric hospital in our country.

A propósito de un caso: micosis pulmonar en paciente pediátrico con enfermedad granulomatosa crónica / Case report: pulmonary mycosis in children with chronic granulomatous diseaseSE

A 8-year-old girl, born and resident of Guárico state, was referred to our Department because of a history of recurrent pneumonia and a history of deceased sister by unspecified lung disease. At the age of 4 years she had suffered several episodes of pneumonia requiring hospitalization. These episodes were no-responsive to antibiotic therapy and treatment for tuberculosis. Subsequently, At the age of 8 years she was hospitalized again for an episode of left lower lobe pneumonia that did not improve. Studies were performed to rule out pulmonary pathology disease: Cystic Fibrosis was discarded and also Pulmonary Tuberculosis. Serology for HIV and Fungi were negative. Because serological studies were inconclusive, a videobronchoscopy plus Bronchoalveolar lavage and lung tissue biopsy were performed, which reported bronchitis and chronic granulomatous and caseous necrosis. Special stains were observed that suggest fungus infection. Primary immunodeficiency was suspected in the patient, because the presence of recurrent pneumonia of different etiologies. The presence of the granuloma observed by the videobronchoscopy. A positive culture for Histoplasma and Aspergillus fungi, and the result of the oxidative capacity test, where the deficiency was observed in the microbicidal activity of macrophages. They were strong evidence that corroborated the immunodeficiency called Chronic Granulomatous Disease.

Escolar femenino de 8 años de edad, natural y procedente del Estado Guárico, con antecedente de hospitalizaciones por neumonías recurrente desde los 4, recibió antibioticoterapia endovenosa y cumplió tratamiento antifímico en dos oportunidades, persistiendo con sintomatología respiratoria. A los 8 años precisó nueva hospitalización por diagnóstico de neumonía del lóbulo inferior izquierdo. Por no presentar mejoría y antecedente de hermana fallecida por patología pulmonar no precisada fue referida a nuestro centro. Se realizaron estudios por patología pulmonar crónica: se descartó Fibrosis Quística y Tuberculosis Pulmonar. Serología para HIV y Hongos Negativa. Por no ser concluyentes los estudios serológicos se realizó Videobroncoscopia más lavado y biopsia, la cual reportó bronquitis crónica granulomatosa y necrosis caseosa. Coloraciones especiales: hongos intracitoplasmáticos sugestivos de Histoplasma Sp. y en el cultivo presentó crecimiento de Aspergillus fumigatus. Ante la presencia de paciente con neumonía recurrente por diferentes etiologías se sospechó la presencia de Inmunodeficiencia Primaria, planteando en base al reporte de la videobroncoscopia de granuloma y la confirmación de Infección por Histoplasma y Aspergillus una Enfermedad Granulomatosa Crónica que fue documentada al medir la deficiencia en la actividad microbicida dependiente de oxigeno evaluada a través del Test de Capacidad Oxidativa.

A Case of IgM Deficiency with B Cell Deficiency Detected by ABO Discrepancy in a Patient with Acute Osteomyelitis

ABO discrepancy refers to an inconsistency between red cell and serum typings and has various causes, including hypogammaglobulinemia. IgM deficiency is a rare disorder that may accompany several conditions such as infection and autoimmune disorders. Here, we describe a case of IgM deficiency discovered during the evaluation of an ABO discrepancy in a 16-yr-old Korean boy. ABO blood grouping showed that while his cell type was O+, serum typing detected only anti-A (3+). Anti-B was not detectable at room temperature but was graded at 1+ at 4degrees C. ABO genotyping revealed an O/O genotype. His serum IgG, IgA, and IgM concentrations were 770 mg/dL (reference range: 800-1,700 mg/dL), 244 mg/dL (reference range: 100-490 mg/dL), and 13.5 mg/dL (reference range: 50-320 mg/dL), respectively. He was diagnosed with acute osteomyelitis on the basis of clinical presentation and imaging studies. The symptoms gradually improved within 3 weeks of treatment. However, the ABO discrepancy and IgM deficiency persisted even 6 months after recovery and lymphocyte subset analysis revealed CD19+ B cell deficiency. To the best of our knowledge, IgM deficiency detected by ABO discrepancy in a patient with acute osteomyelitis has not been reported before.

A Case of IgM Deficiency with B Cell Deficiency Detected by ABO Discrepancy in a Patient with Acute Osteomyelitis

ABO discrepancy refers to an inconsistency between red cell and serum typings and has various causes, including hypogammaglobulinemia. IgM deficiency is a rare disorder that may accompany several conditions such as infection and autoimmune disorders. Here, we describe a case of IgM deficiency discovered during the evaluation of an ABO discrepancy in a 16-yr-old Korean boy. ABO blood grouping showed that while his cell type was O+, serum typing detected only anti-A (3+). Anti-B was not detectable at room temperature but was graded at 1+ at 4degrees C. ABO genotyping revealed an O/O genotype. His serum IgG, IgA, and IgM concentrations were 770 mg/dL (reference range: 800-1,700 mg/dL), 244 mg/dL (reference range: 100-490 mg/dL), and 13.5 mg/dL (reference range: 50-320 mg/dL), respectively. He was diagnosed with acute osteomyelitis on the basis of clinical presentation and imaging studies. The symptoms gradually improved within 3 weeks of treatment. However, the ABO discrepancy and IgM deficiency persisted even 6 months after recovery and lymphocyte subset analysis revealed CD19+ B cell deficiency. To the best of our knowledge, IgM deficiency detected by ABO discrepancy in a patient with acute osteomyelitis has not been reported before.

Orofacial manifestation of hematological disorders: Hemato-oncologic and immuno-deficiency disorders.

The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases with special reference to hemato-oncologic, immuno-deficiency disorders, and human immunodeficiency virus infection. A computerized literature search using MEDLINE was conducted for published articles on orofacial manifestations of hematological diseases with emphasis on hemato-oncologic and human immunodeficiency virus (HIV) infection. Mesh phrases used in the search were: Oral diseases AND hematological disorders; orofacial diseases AND leukemias; orofacial lesions AND lymphomas; orofacial diseases AND multiple myeloma, orofacial manifestations AND HIV. The Boolean operator "AND" was used to combine and narrow the searches. The full texts of these articles were thoroughly examined. References in these articles also were manually searched non-Medline articles. Only relevant articles were selected for the review. Orofacial manifestation of malignant hematological diseases may present as primary clinical features due to infiltration of orofacial tissues, or as secondary due to the subsequent infiltration of normal bone marrow elements, or tertiary due to the side effects of the treatment. HIV-associated orofacial lesion may be a clinical indicator of HIV infection in otherwise healthy, undiagnosed individuals; an early clinical feature of HIV infection; clinical markers for the classification and staging of HIV disease or may be a predictor of HIV disease progression. Orofacial manifestations of malignant hematological diseases and HIV infection are not uncommon findings in clinical practice. These manifestations may be clinical indicators of hematologic disorders in otherwise healthy, undiagnosed individuals.

A single center 14 years study of infectious complications leading to hospitalization of patients with primary antibody deficiencies

Primary antibody deficiencies (PADs) are a heterogeneous group of disorders, characterized by hypogammaglobulinemia and increased susceptibility to bacterial infections, leading to hospitalizations. This study was performed to determine the main infectious causes of hospital admissions in selective Iranian patients with PADs. Forty patients with PADs, who were admitted to the Infectious Ward of Children's Medical Center Hospital during a 14-year period, were reviewed in this study. There were 115 documented episodes of hospital admission during a 14-year period. The average length of hospital stay was 33.30 ± 25.72 days. Pneumonia was the most prominent infection leading to hospitalization among these patients (n = 48), followed by gastroenteritis (n = 23). Other less frequent causes of hospitalization were fever and neutropenia, septic arthritis, encephalitis, orbital cellulitis, sepsis, urinary tract infection, meningitis, oral ulcer, and lung abscess. The most common causative organisms of diarrhea were: Giardia lamblia, followed by Candida albicans, and Salmonella sp. Many patients with PADs suffer from repeated infections leading to hospitalization, in spite of immunoglobulin replacement therapy. Respiratory tract infections were the prominent cause of hospitalization among studied patients, followed by gastrointestinal infections.

Síndrome de reconstitución inmune en pacientes VIH positivo / Immune reconstitution syndrome in HIV-positive patients

El síndrome de reconstitución inmune (SR) en pacientes VIH positivo es una consecuencia adversa de la restauración de la respuesta inmune específica, durante los primeros 6 meses de tratamiento antirretroviral de gran actividad (TARGA). Objetivo. Cuantificar la prevalencia de SRI y caracterizar demográfica, clínica, inmunológica y virológicamente a pacientes VIH positivo con SRI que iniciaron TARGA en la Clínica de Enfermedades Infecciosas del Hospital Roosevelt, ciudad capital, Guatemala, 2006-2008...

A case of granulomatous lung disease in a patient with Good's syndrome

Good's syndrome is extremely rare. This adult-onset condition is characterized by a thymoma with immunodeficiency, low B- and T-cell counts, and hypo-gammaglobulinemia. The initial clinical presentation is either a mass-lesion thymoma or a recurrent infection. Patients with Good's syndrome are very susceptible to infections; common respiratory and opportunistic infections can be life-threatening. There are no reports of granulomatous lung disease in patients with Good's syndrome, although it has been observed in patients with common variable immunodeficiency, of which Good's syndrome is a subset. We describe a 53-year-old male thymoma patient who presented with respiratory symptoms caused by granulomatous lung disease and an opportunistic infection. He died of uncontrolled fungal infection despite repeated intravenous immunoglobulin and supportive care. Clinicians should look for evidence of immunologic dysfunction in thymoma patients presenting with severe recurrent infections, especially opportunistic infections.

Aspergilosis meningovascular: caso clínico / Meningovascular aspergillosis: case report

El diagnóstico precoz de la infección por Aspergillus del Sistema Nervioso Central (SNC) es un gran desafío, donde la sospecha clínica fundamentada es clave por la alta letalidad de la entidad aún con tratamiento oportuno. La importante dificultad diagnostica es favorecida por algunas características de la entidad: baja incidencia, compromiso de individuos inmunocomprometidos que presentan múltiples infecciones, manifestaciones neurológicas clínicas e imagenológicas inespecíficas y métodos diagnósticos etiológicos de resultados tardíos. Presentamos el caso de un paciente diabético y alcohólico, con aspergilosis meningovascular precedida en 8 meses por un foco fúngico pulmonar. La presentación clínica fue a la manera de una meningoencefalitis subaguda con: cefalea, vértigo, compromiso de lenguaje, hemiparesia, alteración de conciencia y crisis convulsiva. Se trato con Anfotericina B con recuperación clínica completa. En este artículo revisamos algunos aspectos del compromiso por Aspergillus del SNC: mecanismos patogénicos, formas clínicas, factores de riesgo, principales métodos diagnósticos y alternativas de tratamiento.

Infecciones cutáneas en pacientes con trasplante de órganos sólidos / Cutaneous infectionsin patients with solid organ transplantation

Las causas más importantes de morbimortalidad en los pacientes receptores de trasplantes de órganos son las infecciones y el rechazo del injerto. Las infecciones cutáneas en estos pacientes se presentan en forma proteiforme y es muy extensa la lista de diagnósticos diferenciales. Presentamos nuestra experiencia y una revisión sobre infecciones cutáneas en pacientes con trasplante de órganos sólidos destacando la importancia del diagnóstico precoz y la necesidad de instaurar un esquema terapéutico adecuado

Diagnóstico temprano del síndrome de hiper IgE: un desafío / Early diagnosis of the hyper-IgE syndrome - a challenge

En la atención de niños con infecciones inusuales, el pediatra debe considerar la posibilidad de un déficit inmunitario subyacente. Los más comunes, como la infección por el virus de la inmunodeficiencia humana y muchos defectos humorales, pueden ser fácilmente descartados. Otras inmunodeficiencias pueden requerir un adecuado índice de sospecha y eventualmente una consulta especializada. El síndrome de Buckley o de hiper IgE es una inmunodeficiencia compleja y de frecuencia no bien establecida, caracterizada por eccema precoz, abscesos recurrentes, infecciones respiratorias con formación de neumatoceles pulmonares, características faciales toscas, anomalías dentarias y esqueléticas y una marcada elevación sérica de IgE. Su sospecha clínica temprana y su eventual confirmación pueden ser dificultosas, ya que en niños pequeños aparece usualmente incompleto, el defecto inmunológico subyacente no ha sido definitivamente caracterizado y no existe una prueba diagnóstica definitiva. Se comunican los casos de dos niños con síndromede hiper IgE que presentaron dificultades en el diagnóstico, asistidos en un período de dos años en un hospital pediátrico.