The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.

In addition to their detection in typical X-linked severe combined immunodeficiency, hypomorphic mutations in the interleukin (IL)-2 receptor common gamma chain gene (IL2RG) have been described in patients with atypical clinical and immunological phenotypes. In this leaky clinical phenotype the diagnosis is often delayed, limiting prompt therapy in these patients. Here, we report the biochemical and functional characterization of a nonsense mutation in exon 8 (p.R328X) of IL2RG in two siblings: a 4-year-old boy with lethal Epstein-Barr virus-related lymphoma and his asymptomatic 8-month-old brother with a Tlow B+ natural killer (NK)+ immunophenotype, dysgammaglobulinemia, abnormal lymphocyte proliferation and reduced levels of T cell receptor excision circles. After confirming normal IL-2RG expression (CD132) on T lymphocytes, signal transducer and activator of transcription-1 (STAT-5) phosphorylation was examined to evaluate the functionality of the common gamma chain (γc ), which showed partially preserved function. Co-immunoprecipitation experiments were performed to assess the interaction capacity of the R328X mutant with Janus kinase (JAK)3, concluding that R328X impairs JAK3 binding to γc . Here, we describe how the R328X mutation in IL-2RG may allow partial phosphorylation of STAT-5 through a JAK3-independent pathway. We identified a region of three amino acids in the γc intracellular domain that may be critical for receptor stabilization and allow this alternative signaling. Identification of the functional consequences of pathogenic IL2RG variants at the cellular level is important to enable clearer understanding of partial defects leading to leaky phenotypes.

Clinical practice update of antifungal prophylaxis in immunocompromised children.

Due to the rise in the number and types of immunosuppressed patients, invasive fungal infections (IFI) are an increasing and major cause of morbidity and mortality in immunocompromised adults and children. There is a broad group of pediatric patients at risk for IFI in whom primary and/or secondary antifungal prophylaxis (AFP) should be considered despite scant evidence. Pediatric groups at risk for IFI includes extremely premature infants in some settings, while in high-risk children with cancer receiving chemotherapy or undergoing haematopoietic stem cell transplantation (HCT), AFP against yeast and moulds is usually recommended. For solid organ transplanted, children, prophylaxis depends on the type of transplant and associated risk factors. In children with primary or acquired immunodeficiency such as HIV or long-term immunosuppressive treatment, AFP depends on the type of immunodeficiency and the degree of immunosuppression. Chronic granulomatous disease is associated with a particular high-risk of IFI and anti-mould prophylaxis is always indicated. In contrast, AFP is not generally recommended in children with long stay in intensive care units. The choice of AFP is limited by the approval of antifungal agents in different age groups and by their pharmacokinetics characteristics. This document aims to review current available information on AFP in children and to provide a comprehensive proposal for each type of patient.

Screening protocols to monitor respiratory status in primary immunodeficiency disease: findings from a European survey and subclinical infection working group.

Many patients with primary immunodeficiency (PID) who have antibody deficiency develop progressive lung disease due to underlying subclinical infection and inflammation. To understand how these patients are monitored we conducted a retrospective survey based on patient records of 13 PID centres across Europe, regarding the care of 1061 adult and 178 paediatric patients with PID on immunoglobulin (Ig) G replacement. The most common diagnosis was common variable immunodeficiency in adults (75%) and hypogammaglobulinaemia in children (39%). The frequency of clinic visits varied both within and between centres: every 1-12 months for adult patients and every 3-6 months for paediatric patients. Patients diagnosed with lung diseases were more likely to receive pharmaceutical therapies and received a wider range of therapies than patients without lung disease. Variation existed between centres in the frequency with which some clinical and laboratory monitoring tests are performed, including exercise tests, laboratory testing for IgG subclass levels and specific antibodies, and lung function tests such as spirometry. Some tests were carried out more frequently in adults than in children, probably due to difficulties conducting these tests in younger children. The percentage of patients seen regularly by a chest physician, or who had microbiology tests performed following chest and sinus exacerbations, also varied widely between centres. Our survey revealed a great deal of variation across Europe in how frequently patients with PID visit the clinic and how frequently some monitoring tests are carried out. These results highlight the urgent need for consensus guidelines on how to monitor lung complications in PID patients.

¿Es útil el cribado familiar en el déficit selectivo de inmunoglobulina A? / Is familial screening useful in selective immunoglobulin A deficiency?

INTRODUCCIÓN: El déficit selectivo de IgA (DSIgA) es la inmunodeficiencia primaria más frecuente, siendo a menudo asintomática. Se ha descrito una elevada agregación familiar, sin conocerse el defecto genético causante ni su mecanismo hereditario. OBJETIVOS: Definir la utilidad del cribado de los familiares de primer grado de los pacientes con DSIgA valorando si los casos familiares presentan unas características clínicas e inmunológicas más graves que los casos esporádicos (CE) y si los familiares diagnosticados de DSIgA presentan sintomatología clínica significativa para justificar su cribado. PACIENTES Y MÉTODOS: Estudio transversal descriptivo (octubre del 2010-septiembre del 2011) de todos los pacientes con DSIgA controlados en nuestro centro, con revisión de datos demográficos, clínicos y analíticos. Se consideró como caso familiar (CF) todo aquel con al menos un familiar de primer grado (FPG) con DSIgA. RESULTADOS: De los 130 participantes, 42 eran pacientes con DSIgA y 88 FPG. Se diagnosticaron 13 CF (31%), 29 CE (69%) y 14 (16%) FPG enfermos (FPG-E). El número necesario a analizar para encontrar un FPG-E fue de 6 familiares. No hubo diferencias clínicas entre los pacientes. Hubo una proporción mayor de patología intestinal (p = 0,001, OR=9,57, IC del 95%, 2,59-35,3), ingresos (p = 0,045, OR=4,01; IC del 95%, 1,10-14,67) y necesidad de tratamiento crónico (p = 0,006, OR=5,5; IC del 95%, 1,57-19,54) en los FPG-E con respecto a los FPG sanos. CONCLUSIONES: A pesar de no encontrar más complicaciones clínicas en los CF de DSIgA, la elevada prevalencia de familiares afectados con afectación clínica significativa podría justificar la realización sistemática de estos programas de cribado

INTRODUCTION: Selective immunoglobulin A deficiency (SIgAD), the most common primary immunodeficiency, is often asymptomatic. High rates of familial clustering have been described in SIgAD, but the causative genetic defect and mechanism of inheritance are unknown. OBJECTIVES: To determine whether familial SIgAD cases show more severe clinical and immunological characteristics than sporadic ones; to investigate the utility of screening first-degree relatives (FDRs) of these patients, and to determine whether symptoms in affected family members are important enough to justify screening. PATIENTS AND METHODS: Descriptive, cross-sectional study (October 2010-September 2011) of all patients with SIgAD and followed up in our center. Demographic, clinical, and analytical data were reviewed. A familial case was defined as an SIgAD patient with at least one affected FDR. RESULTS: Of the 130 participants, 42 were SIgAD patients and 88 FDR. There were 13 (31%) familial cases and and 14 (16%) affected FDRs. Six family members had to be analyzed in order to detect one affected one. There were no clinical differences between familial and sporadic SIgAD cases. The percentages of intestinal disease (p=001, OR=9.57, 95%CI 2.59-35.3), hospitalizations (p=045, OR=4.01; 95%CI 1.10-14.67], and need for chronic treatment (p=006, OR=5.5; 95%CI 1.57-19.54) were higher in affected FDRs than in unaffected ones. CONCLUSIONS: The symptoms were not more severe in familial than sporadic SIgAD cases. Nonetheless, the elevated prevalence of affected FDRs with significant morbidity may justify routine screening of close family members of these patients

[Is familial screening useful in selective immunoglobulin A deficiency?]. / ¿Es útil el cribado familiar en el déficit selectivo de inmunoglobulina A?

INTRODUCTION: Selective immunoglobulin A deficiency (SIgAD), the most common primary immunodeficiency, is often asymptomatic. High rates of familial clustering have been described in SIgAD, but the causative genetic defect and mechanism of inheritance are unknown. OBJECTIVES: To determine whether familial SIgAD cases show more severe clinical and immunological characteristics than sporadic ones; to investigate the utility of screening first-degree relatives (FDRs) of these patients, and to determine whether symptoms in affected family members are important enough to justify screening. PATIENTS AND METHODS: Descriptive, cross-sectional study (October 2010-September 2011) of all patients with SIgAD and followed up in our center. Demographic, clinical, and analytical data were reviewed. A familial case was defined as an SIgAD patient with at least one affected FDR. RESULTS: Of the 130 participants, 42 were SIgAD patients and 88 FDR. There were 13 (31%) familial cases and and 14 (16%) affected FDRs. Six family members had to be analyzed in order to detect one affected one. There were no clinical differences between familial and sporadic SIgAD cases. The percentages of intestinal disease (p=001, OR=9.57, 95%CI 2.59-35.3), hospitalizations (p=045, OR=4.01; 95%CI 1.10-14.67], and need for chronic treatment (p=006, OR=5.5; 95%CI 1.57-19.54) were higher in affected FDRs than in unaffected ones. CONCLUSIONS: The symptoms were not more severe in familial than sporadic SIgAD cases. Nonetheless, the elevated prevalence of affected FDRs with significant morbidity may justify routine screening of close family members of these patients.

Meningitis recurrente por defectos anatómicos: la bacteria indica su origen / Recurrent meningitis due to anatomical defects: The bacteria indicates its origin

Introducción: La meningitis recurrente es una patología infrecuente. Los factores predisponentes son alteraciones anatómicas o situaciones de inmunodeficiencia. Presentamos 4 casos en los que, excluida una inmunodeficiencia, el microorganismo responsable orientó al defecto anatómico causante de las recurrencias. Pacientes y métodos: Revisión retrospectiva de 4 casos clínicos con diagnóstico de meningitis bacteriana recurrente. Resultados: Caso 1: niño de 30 meses con hipoacusia unilateral, diagnosticado por resonancia magnética (RM) de malformación de Mondini tras 2 episodios de meningitis por Haemophilus influenzae. Reparación quirúrgica tras tercera recurrencia. Caso 2: niña de 14 años diagnosticada por RM de defecto de lámina cribiforme posterior a 3 episodios de meningitis por Streptococcus pneumoniae. Se coloca válvula de derivación ventrículo-peritoneal. Caso 3: niña con meningitis por Staphylococcus aureus a los 2 y 7 meses. La RM muestra seno dérmico occipital que requiere exéresis. Complicación con abscesos cerebelosos por coexistencia de quiste dermoide. Caso 4: niño con meningitis por Streptococcus bovis a los 9 días y porEnterococcus faecium, Klebsiella pneumoniae y Escherichia coli a los 7 meses, con crecimiento de Citrobacter freundii y E. faecium posteriormente. RM compatible con síndrome de Currarino. Incluye fístula rectal de LCR, que se repara quirúrgicamente. A los 4 pacientes se les habían realizado pruebas de imagen durante los primeros episodios de meningitis, informadas como normales. Conclusiones: En los pacientes con meningitis recurrentes se debe valorar la posibilidad de un defecto anatómico; el microorganismo aislado debe ayudar a localizarlo. Es imprescindible conocer la flora normal de los potenciales focos. El tratamiento definitivo es habitualmente quirúrgico (AU)

Introduction: Recurrent meningitis is a rare disease. Anatomical abnormalities and immunodeficiency states are predisposing factors. Four cases, in which immunodeficiency was excluded, are presented. The causal microorganism led to the detection of the anatomical defect responsible for the recurrences. Patients and methods: Retrospective review of 4 cases with clinical diagnosis of recurrent bacterial meningitis. Results: Case 1: a thirty month-old boy with unilateral hearing loss, diagnosed with Mondini abnormality by magnetic resonance imaging (MRI) after 2 episodes of Haemophilus influenzae meningitis. Surgical repair after third recurrence. Case 2: fourteen year-old girl diagnosed by MRI with cribriform plate defect after 3 episodes of meningitis due toStreptococcus pneumoniae. Ventriculoperitoneal shunt was placed. Case 3: girl with meningitis due to Staphylococcus aureus at 2 and 7 months. MRI shows occipital dermal sinus requiring excision. Complication with cerebellar abscesses because of a coexisting dermoid cyst. Case 4: child with meningitis due to Streptococcus bovis at 9 days andEnterococcus faecium, Klebsiella pneumoniae and Escherichia coli at 7 months, with positive cultures to Citrobacter freundii and E. faecium later on. Spinal MRI led to the diagnosis of Currarino syndrome with CSF fistula, which was surgically repaired. The 4 patients had undergone image studies reported as normal during the first episodes. Conclusions: In patients with recurrent meningitis the possibility of an anatomical defect should be considered. The isolated microorganism should help to locate it. It is essential to know the normal flora of the different anatomical sites. The definitive treatment is usually surgical (AU)

La reacción en cadena de la polimerasa en el diagnóstico de la enfermedad meningocócica invasiva / The use of polymerase chain reaction in the diagnosis of invasive meningococcal disease

INTRODUCCIÓN OBJETIVOS: La enfermedad meningocócica invasiva (EMI) constituye un grave problema de salud pública. A pesar de que el cultivo es la técnica de referencia para su diagnóstico, la administración previa de antibiótico altera su sensibilidad. Los objetivos de este estudio son el análisis epidemiológico de la EMI en nuestro medio, evaluar la utilidad de la reacción en cadena de la polimerasa (PCR) para incrementar el diagnóstico de confirmación de la EMI y valorar la asociación de la administración de antibiótico con el resultado negativo del cultivo. Pacientes y métodos: Estudio retrospectivo de los pacientes menores de 16 a˜nos diagnosticados de EMI mediante cultivo, PCR o ambos, que ingresaron en nuestro centro en el periodo 2004- 2012. Resultados: Se incluyó a 75 pacientes, de los cuales el 52% presentó sepsis, el 30,7% meningitis y el 17,3% sepsis con meningitis. La PCR fue positiva en todas las muestras de sangre y líquido cefalorraquídeo analizadas, mientras que el cultivo tuvo una positividad muy inferior (50,7%). Recibieron antibiótico antes de la extracción de las muestras 40 pacientes (53,3%) y el 40% de ellos fueron confirmados por la PCR. Conclusiones: Gracias a la PCR se obtuvo un diagnóstico de confirmación de EMI en el 38,7% de los casos y del serogrupo, hecho relevante para la vigilancia epidemiológica y el estudio de la efectividad vacunal

INTRODUCTION AND OBJECTIVES AND AIMS: Invasive meningococcal disease (IMD) remains a serious public health problem. Although culture is the gold standard, previous antibiotic therapy reduces its sensibility. The aim of this study is the epidemiological analysis of IMD in our area, to assess the usefulness of polymerase chain reaction (PCR) to increase its diagnostic accuracy,and to show the association of antibiotic administration with the negative result of the culture. Patients and methods: A retrospective study was conducted on all children younger than 16 years with microbiologically (positive culture and/or PCR) confirmed IMD, admitted to our hospital between 2004-2012. Results: Seventy-five patients were included, of whom 52% had sepsis, 30.7% meningitis, and 17.3% with both of them. PCR was positive in all samples, whereas a positive was seen 50.7% of the cultures. Previously administered antibiotic was documented in 40 patients (53.3%), and 40% of them were confirmed by PCR only. Conclusions: PCR was the only test providing evidence for IMD diagnosis and serogroup determination in almost 39% of cases

[The use of polymerase chain reaction in the diagnosis of invasive meningococcal disease]. / La reacción en cadena de la polimerasa en el diagnóstico de la enfermedad meningocócica invasiva.

INTRODUCTION AND OBJECTIVES AND AIMS: Invasive meningococcal disease (IMD) remains a serious public health problem. Although culture is the gold standard, previous antibiotic therapy reduces its sensibility. The aim of this study is the epidemiological analysis of IMD in our area, to assess the usefulness of polymerase chain reaction (PCR) to increase its diagnostic accuracy,and to show the association of antibiotic administration with the negative result of the culture. PATIENTS AND METHODS: A retrospective study was conducted on all children younger than 16 years with microbiologically (positive culture and/or PCR) confirmed IMD, admitted to our hospital between 2004-2012. RESULTS: Seventy-five patients were included, of whom 52% had sepsis, 30.7% meningitis, and 17.3% with both of them. PCR was positive in all samples, whereas a positive was seen 50.7% of the cultures. Previously administered antibiotic was documented in 40 patients (53.3%), and 40% of them were confirmed by PCR only. CONCLUSIONS: PCR was the only test providing evidence for IMD diagnosis and serogroup determination in almost 39% of cases.

[Recurrent meningitis due to anatomical defects: The bacteria indicates its origin]. / Meningitis recurrente por defectos anatómicos: la bacteria indica su origen.

INTRODUCTION: Recurrent meningitis is a rare disease. Anatomical abnormalities and immunodeficiency states are predisposing factors. Four cases, in which immunodeficiency was excluded, are presented. The causal microorganism led to the detection of the anatomical defect responsible for the recurrences. PATIENTS AND METHODS: Retrospective review of 4 cases with clinical diagnosis of recurrent bacterial meningitis. RESULTS: Case 1: a thirty month-old boy with unilateral hearing loss, diagnosed with Mondini abnormality by magnetic resonance imaging (MRI) after 2 episodes of Haemophilus influenzae meningitis. Surgical repair after third recurrence. Case 2: fourteen year-old girl diagnosed by MRI with cribriform plate defect after 3 episodes of meningitis due to Streptococcus pneumoniae. Ventriculoperitoneal shunt was placed. Case 3: girl with meningitis due to Staphylococcus aureus at 2 and 7 months. MRI shows occipital dermal sinus requiring excision. Complication with cerebellar abscesses because of a coexisting dermoid cyst. Case 4: child with meningitis due to Streptococcus bovis at 9 days and Enterococcus faecium, Klebsiella pneumoniae and Escherichia coli at 7 months, with positive cultures to Citrobacter freundii and E. faecium later on. Spinal MRI led to the diagnosis of Currarino syndrome with CSF fistula, which was surgically repaired. The 4 patients had undergone image studies reported as normal during the first episodes. CONCLUSIONS: In patients with recurrent meningitis the possibility of an anatomical defect should be considered. The isolated microorganism should help to locate it. It is essential to know the normal flora of the different anatomical sites. The definitive treatment is usually surgical.

Ampliación del cribado neonatal a la detección de inmunodeficiencias combinadas graves. Un imperativo moral / Extending neonatal screening to the detection of severe combined immunodeficiencies. A moral imperative

No disponible

Patología infecciosa importada en hospitales terciarios / Imported infectious diseases in tertiary hospital

INTRODUCCIÓN: En el ańo 2009 se crea en nuestro centro una Consulta de Patología Importada. El objetivo de este trabajo es conocer su aportación en cuanto a capacidad, calidad asistencial y docencia ofrecida. PACIENTES Y MÉTODOS: Estudio retrospectivo entre 2009 y 2011 donde se analizan: a) desarrollo del conocimiento mediante la valoración de protocolos y publicaciones realizadas, así como la docencia impartida; y b) capacidad y calidad asistencial ofrecida mediante el análisis de los pacientes atendidos, la adecuación a los protocolos y la accesibilidad a la consulta. Se clasifican los pacientes atendidos en 3 grupos: grupo 1 cribado del paciente inmigrante; grupo 2 consulta tras viaje a zona tropical o subtropical; grupo 3 cribado de enfermedad importada de transmisión vertical. RESULTADOS: Se han desarrollado y difundido en la web de la unidad 6 protocolos y 5 publicaciones científicas. Se han atendido 316 pacientes: 191 incluidos en el grupo 1 (29 adoptados y 162 inmigrantes); 57 en el grupo 2 (94,7% Visiting Friends and Relatives y 81,5% sin consulta previaje), que acudieron principalmente por clínica gastrointestinal (52,6%) y fiebre (43,8%); y 68 en el grupo 3 con riesgo de infección importada de transmisión vertical (62 Trypanosoma cruzi, 1 virus linfotrópico T humano y 5 Plasmodium spp.). La adecuación global a los protocolos disponibles fue del 77,1%. DISCUSIÓN: Las unidades de patología infecciosa deben adaptarse a la realidad de la población que atienden, siendo flexibles en su estructura. Es imprescindible la valoración periódica de la calidad asistencial ofrecida, así como la valoración en la rentabilidad de los estudios complementarios a realizar (AU) - es INTRODUCTION: An Imported Diseases Clinic was created in the hospital in 2009. The aim of this study was to asses its contribution in terms of capacity, quality of care and teaching offered. PATIENTS AND METHODS: A retrospective study was conducted from 2009 to 2011, analyzing: A) development of knowledge by means of protocols and publications created, and subject taught; B) capacity and quality of care offered by the analysis of patients seen, the adequacy of the protocols and accessibility.The patients were classified into 3 groups. Group 1: immigrant patient screening, group 2: patient consultation after tropical or sub-tropical travel, group 3: screening of vertical transmission of imported disease. RESULTS: Six protocols have been developed and disseminated on the unit website, as well as 5 scientific publications. A total of 316 patients were evaluated: 191 included in group 1 (29 Adopted and 162 Immigrants), 57 in group 2 (94.7% Visiting Friends and Relatives and 81.5% without a pre-travel consultation). They consulted due to, gastrointestinal symptoms (52.6%) and fever (43.8%), with 68 included in group 3 at risk of imported disease by vertical transmission (62 Trypanosoma cruzi, 1 Human T Lymphotropic Virus and 5 Plasmodium spp.). The overall adherence to the protocols was about 77.1%. DISCUSSION: Infectious Diseases Units must adapt to the reality of the population and be flexible in its structure. Periodic assessment of the quality of care offered is essential, as well as an evaluation on the need for additional studies

INTRODUCTION: An Imported Diseases Clinic was created in the hospital in 2009. The aim of this study was to asses its contribution in terms of capacity, quality of care and teaching offered. PATIENTS AND METHODS: A retrospective study was conducted from 2009 to 2011, analyzing: A) development of knowledge by means of protocols and publications created, and subject taught; B) capacity and quality of care offered by the analysis of patients seen, the adequacy of the protocols and accessibility.The patients were classified into 3 groups. Group 1: immigrant patient screening, group 2: patient consultation after tropical or sub-tropical travel, group 3: screening of vertical transmission of imported disease. RESULTS: Six protocols have been developed and disseminated on the unit website, as well as 5 scientific publications. A total of 316 patients were evaluated: 191 included in group 1 (29 Adopted and 162 Immigrants), 57 in group 2 (94.7% Visiting Friends and Relatives and 81.5% without a pre-travel consultation). They consulted due to, gastrointestinal symptoms (52.6%) and fever (43.8%), with 68 included in group 3 at risk of imported disease by vertical transmission (62 Trypanosoma cruzi, 1 Human T Lymphotropic Virus and 5 Plasmodium spp.). The overall adherence to the protocols was about 77.1%. DISCUSSION: Infectious Diseases Units must adapt to the reality of the population and be flexible in its structure. Periodic assessment of the quality of care offered is essential, as well as an evaluation on the need for additional studieS

Conjuntivitis infecciosa en la edad pediátrica / Pediatric infectious conunctivitis

La conjuntivitis infecciosa es una patología muy prevalente en la edad pediátrica. Suele ser una patología benigna y autolimitada, pero es muy importante un correcto diagnóstico, especificando si se trata de una conjuntivitis bacteriana o vírica y estableciendo un claro diagnóstico diferencial con otras causas de aumento de la secreción y/o ojo rojo. Una mención especial merece la conjuntivitis del recién nacido que es potencialmente una urgencia oftalmológica por los patógenos que pueden estar implicados y además, su diagnóstico y tratamiento difiere del que se plantea ante una conjuntivitis que se desarrolla en niños mayores de un mes de vida (AU)

Infectious conjunctivitis is a common disorder in children. The majority of cases are self-limiting but it is very important to do an accurate diagnosis between bacterial and viral conjunctivitis, and to rule out other causes of red eye or/and discharge. Neonatal conjunctivitis is a sight-threatening infection that should have adequate management and treatment (AU)

[Imported infectious diseases in tertiary hospital]. / Patología infecciosa importada en hospitales terciarios.

INTRODUCTION: An Imported Diseases Clinic was created in the hospital in 2009. The aim of this study was to asses its contribution in terms of capacity, quality of care and teaching offered. PATIENTS AND METHODS: A retrospective study was conducted from 2009 to 2011, analyzing: A) development of knowledge by means of protocols and publications created, and subject taught; B) capacity and quality of care offered by the analysis of patients seen, the adequacy of the protocols and accessibility. The patients were classified into 3 groups. Group 1: immigrant patient screening, group 2: patient consultation after tropical or sub-tropical travel, group 3: screening of vertical transmission of imported disease. RESULTS: Six protocols have been developed and disseminated on the unit website, as well as 5 scientific publications. A total of 316 patients were evaluated: 191 included in group 1 (29 Adopted and 162 Immigrants), 57 in group 2 (94.7% Visiting Friends and Relatives and 81.5% without a pre-travel consultation). They consulted due to, gastrointestinal symptoms (52.6%) and fever (43.8%), with 68 included in group 3 at risk of imported disease by vertical transmission (62 Trypanosoma cruzi, 1 Human T Lymphotropic Virus and 5 Plasmodium spp.). The overall adherence to the protocols was about 77.1%. DISCUSSION: Infectious Diseases Units must adapt to the reality of the population and be flexible in its structure. Periodic assessment of the quality of care offered is essential, as well as an evaluation on the need for additional studies.

La infección en el paciente pediátrico inmunodeprimido / Infection in the immunodepressed pediatric patient

Desde 1996 la Unidad de Patología Infecciosa e Inmunode4ficiencias de Pediatría se ha adaptado a los camibos en las nuevas características de la infecciones en el paciente pediátrco, especialmente en el inmunodeprimido, compaginando la tarea asistencial, docente e investigadora, compaginando la tarea asitencial, docente e investigadora principalmente en 3 áreas: 1) inmunodeficiencias primarias (IDP), 2) infección por el VIH y 3) infecciones oportunistas, con especial dedicación a la infección fúngica invasiva. Actualmente se siguen más de 400 pacientes afectos de una IDP, se ha introducido el uso de gammaglobulina subcutánea en nuestro país y se colabora tanto con instituciones nacionales como internacionales parap romover el conocimiento de las IDP. La investigación en VIH se ha centrado en las complicaciones asociado a la infección y a la evaluación de la calidad asistencial ofrecida a estos pacientes y sus familias. Finalmente, debido a las características intrínsecas del paciente pediátrico, los esfuerzos en el campo de la infección fúngica se han dedicado al conocimiento de las propiedades farmacocinéticas y farmacodinámicas de los diferentes antifúngicos. Consideramos que en todo hospital pediátrico del tercer nivel se hace indispensable la presencia de un Sevicio de Infectología Pediátrica para avanzar en el campo de la racionalización del complejo y costoso tratamiento antiinfeccioso (AU)

Since 1996, the Pediatric Infectious Diseases Immunodeficiencies Unit has adapted itself to the changing features of infections in the pediatric patient, especially int he immunocompromised, combining health care, teaching and research mainly in 3 areas: 1) primary immunodeficiencies (PID), 2)HIV infection and 3) opportunistic infections, with special emphasis on invasive fungal infection. More than 400 patients with a PID are currently followed-up in our UNIT, we have introduced the use of subcutaneous immunoglobulin in Spain and collaborate with both national and international instituitonto promote awareness on PID, HIV research has focused on the complications associated with treatment, the chronic inflammatory process associated with infection and evaluationof the quality of care provided to these patients and their families. Finally, due to the intrinsic characteristics of pediatric patients, efforts in the field of fungal infection have been devoted to the understanding of the pharmacokinetic and pharmacodynamic properties of different antifungal drugs. We believe that in the any tertiary care pediatric hospital the presence of a Pediatric nfectious Diseases Departmetn is mandatory in order to optimize the rationalization ot the complex and expensive anti-infective treatment (AU)

The incidence of AIDS-defining illnesses at a current CD4 count ≥ 200 cells/µL in the post-combination antiretroviral therapy era.

BACKGROUND: Few studies consider the incidence of individual AIDS-defining illnesses (ADIs) at higher CD4 counts, relevant on a population level for monitoring and resource allocation. METHODS: Individuals from the Collaboration of Observational HIV Epidemiological Research Europe (COHERE) aged ≥14 years with ≥1 CD4 count of ≥200 µL between 1998 and 2010 were included. Incidence rates (per 1000 person-years of follow-up [PYFU]) were calculated for each ADI within different CD4 strata; Poisson regression, using generalized estimating equations and robust standard errors, was used to model rates of ADIs with current CD4 ≥500/µL. RESULTS: A total of 12 135 ADIs occurred at a CD4 count of ≥200 cells/µL among 207 539 persons with 1 154 803 PYFU. Incidence rates declined from 20.5 per 1000 PYFU (95% confidence interval [CI], 20.0-21.1 per 1000 PYFU) with current CD4 200-349 cells/µL to 4.1 per 1000 PYFU (95% CI, 3.6-4.6 per 1000 PYFU) with current CD4 ≥ 1000 cells/µL. Persons with a current CD4 of 500-749 cells/µL had a significantly higher rate of ADIs (adjusted incidence rate ratio [aIRR], 1.20; 95% CI, 1.10-1.32), whereas those with a current CD4 of ≥1000 cells/µL had a similar rate (aIRR, 0.92; 95% CI, .79-1.07), compared to a current CD4 of 750-999 cells/µL. Results were consistent in persons with high or low viral load. Findings were stronger for malignant ADIs (aIRR, 1.52; 95% CI, 1.25-1.86) than for nonmalignant ADIs (aIRR, 1.12; 95% CI, 1.01-1.25), comparing persons with a current CD4 of 500-749 cells/µL to 750-999 cells/µL. DISCUSSION: The incidence of ADIs was higher in individuals with a current CD4 count of 500-749 cells/µL compared to those with a CD4 count of 750-999 cells/µL, but did not decrease further at higher CD4 counts. Results were similar in patients virologically suppressed on combination antiretroviral therapy, suggesting that immune reconstitution is not complete until the CD4 increases to >750 cells/µL.

Increase in gonorrhoea among very young adolescents, Catalonia, Spain, January 2012 to June 2013.

Between January 2012 and June 2013, 27 sexually transmitted infections were reported in adolescents aged 13-15 years in Catalonia, Spain. In the first half of 2013, there were nine cases of gonorrhoea, while in the same period of 2012, there was one. In June 2013, two gonorrhoea cases aged 13-14 years, linked to a common source through a social network, were reported. The public health response should be adapted to this vulnerable population.