Outcomes of the PIRASOA programme, an antimicrobial stewardship programme implemented in hospitals of the Public Health System of Andalusia, Spain: an ecologic study of time-trend analysis.

OBJECTIVES: Inappropriate antimicrobial use favours the spread of resistance, and multidrug-resistant microorganisms (MDR) are currently of major concern. Antimicrobial stewardship programmes (ASPs) are essential for improving antibiotic use in hospitals. However, their impact on entire healthcare systems has not been thoroughly assessed. Our objective was to provide the results of an institutionally supported ASP involving 31 public hospitals in Andalusia, Spain. METHODS: We designed an ecologic time-series study from 1 January 2014 to 31 December 2017. Quarterly, data on indicators were collected prospectively, and feedback reports were provided. PIRASOA is an ongoing clinically based quality-improvement programme whose key intervention is the educational interview, regular peer-to-peer interventions between advisors and prescribers to reinforce the appropriate use of antibiotics. Seventy-two indicators were monitored to measure prescribing quality (inappropriate treatments), antimicrobial consumption (defined daily doses per 1000 occupied bed-days), incidence density of MDR per 1000 occupied bed-days and crude mortality rate associated with bloodstream infections. We used Joinpoint regression software to analyse the trends. RESULTS: The quality of antimicrobial prescribing improved markedly, and the inappropriate treatment rate was significantly lower, with quarterly percentage change (QPC) = -3.0%, p < 0.001. Total antimicrobial consumption decreased (QPC = -0.9%, p < 0.001), specifically carbapenems, amoxicillin/clavulanic acid, quinolones and antifungal agents, whereas antipseudomonal cephalosporin use increased. While the incidence of MDR showed a sustained decreasing trend (QPC = -1.8%; p 0.002), the mortality of patients with bloodstream infections remained stable (QPC = -0.2%, p 0.605). CONCLUSIONS: To date, the PIRASOA programme has succeeded in optimizing the use of antimicrobial agents and has had a positive ecologic result on bacterial resistance at level of an entire healthcare system.

Immunogenicity and safety of influenza vaccination in patients with juvenile idiopathic arthritis on biological therapy using the microneutralization assay.

BACKGROUND: Seasonal influenza virus vaccination should be considered in all pediatric patients with rheumatic diseases. Few studies have addressed influenza vaccination safety and efficacy in this group. We aim to prospectively evaluate immunogenicity and safety of the trivalent inactivated influenza vaccine including A/H1N1, A/H3N2 and B strains in children with juvenile idiopathic arthritis (JIA) receiving biological therapy. METHODS: Thirty-five children diagnosed with JIA and 6 healthy siblings were included. Serum samples were collected prior to, 4-8 weeks and one year after vaccination. Microneutralization assays were used to determine neutralizing antibody titers. The type and duration of therapy were analyzed to determine its effect on vaccine response. Clinical data of the participants were collected throughout the study including severe adverse events (SAE) and adverse events following immunization (AEFI). RESULTS: Twenty-five patients (74.3%) received biological treatment for JIA; anti TNF-α was prescribed in 15, anti IL-1 receptor in 4 and anti IL-6 receptor therapy in 6 children. The seroprotection rate 4-8 weeks after vaccination in the JIA group was 96% for influenza A/(H1N1)pdm and influenza A/H3N2, and 88% for influenza B. No differences were found in GMT, seroprotection and seroconversion rates for the three influenza strains between the control group and patients receiving biological therapy. Furthermore, long-term seroprotection at 12 months after vaccination was similar in patients receiving either biological or non-biological treatments. No SAEs were observed. CONCLUSIONS: In this study, influenza vaccination was safe and immunogenic in children with JIA receiving biological therapy.

Inusual complicación en la edad pediátrica: encefalopatía de Wernicke asociada a nutrición parenteral deficiente en tiamina / Unusual complication in a paediatric patient: Wernicke encephalopathy associated with thiamine-deficient parenteral nutrition

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Factors associated with severity in invasive community-acquired Staphylococcus aureus infections in children: a prospective European multicentre study.

Staphylococcus aureus is the main pathogen responsible for bone and joint infections worldwide and is also capable of causing pneumonia and other invasive severe diseases. Panton-Valentine leukocidin (PVL) and methicillin-resistant S. aureus (MRSA) have been studied as factors related with severity in these infections. The aims of this study were to describe invasive community-acquired S. aureus (CA-SA) infections and to analyse factors related to severity of disease. Paediatric patients (aged 0-16 years) who had a CA-SA invasive infection were prospectively recruited from 13 centres in 7 European countries. Demographic, clinical and microbiological data were collected. Severe infection was defined as invasive infection leading to death or admission to intensive care due to haemodynamic instability or respiratory failure. A total of 152 children (88 boys) were included. The median age was 7.2 years (interquartile range, 1.3-11.9). Twenty-six (17%) of the 152 patients had a severe infection, including 3 deaths (2%). Prevalence of PVL-positive CA-SA infections was 18.6%, and 7.8% of the isolates were MRSA. The multivariate analysis identified pneumonia (adjusted odds ratio (aOR) 13.39 (95% confidence interval (CI) 4.11-43.56); p 0.008), leukopenia at admission (<3000/mm(3)) (aOR 18.3 (95% CI 1.3-259.9); p 0.03) and PVL-positive infections (aOR 4.69 (95% CI 1.39-15.81); p 0.01) as the only factors independently associated with severe outcome. There were no differences in MRSA prevalence between severe and nonsevere cases (aOR 4.30 (95% CI 0.68- 28.95); p 0.13). Our results show that in European children, PVL is associated with more severe infections, regardless of methicillin resistance.

Recurrent infective endocarditis due to Aggregatibacter aphrophilus and Staphylococcus lugdunensis.

Uncommon microorganisms are increasingly being recognized as causative agents of paediatric infectious endocarditis (IE). We report a 4-year old girl with congenital heart disease, who suffered from 2 IE episodes secondary to Aggregatibacter aphrophilus (formerly Haemophilus aphrophilus) and Staphylococcus lugdunensis, both rarely reported pathogens in this age group. The patient was initially successfully treated with prolonged intravenous antibiotic courses, however removal of the Contegra valved conduit during the second episode was required due to recurrence of fever and development of pulmonary embolism despite completion of antibiotic therapy. A. aphrohilus is a member of the fastidious gram negative microorganisms of the HACEK group (Haemophilus spp., Aggregatibacter spp, Cardiobaterium hominis, Eikenella corrodens and Kingella kingae), that colonize the oropharynx and are a recognised cause of IE. Prognosis of children with IE due to HACEK group members varies, half of them suffering from complications and mortality rates of 10-12.5%. Although S. lugdunensis belongs to coagulase negative staphylococci (CONS), it behaves more like S. aureus species rather than CONS. This microorganism is a well-described cause of endocarditis in adult patients, associated with high requirements of surgical procedures and mortality (42-78%). In conclusion, paediatric IE can be caused by uncommon microorganisms associated with severe complications and potential fatality. The isolation of S. lugdunensis or A. aphrophilus in febrile patients should be considered clinically relevant and cardiac involvement must be ruled out. Those patients with proved IE will require prolonged intravenous antibiotic courses and in complicated cases surgical intervention.

Primer estudio piloto en España sobre el cribado neonatal de las inmunodeficiencias primarias: TRECS y KRECS identifican linfopenias T y B graves / A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopenia

INTRODUCCIÓN: El diagnóstico precoz de inmunodeficiencias primarias, como la inmunodeficiencia combinada grave (IDCG) y la agammaglobulinemia ligada al cromosoma X (ALX), mejora el pronóstico de los ni˜nos afectados. La medida de los T-cell receptor excision circles (TRECS) y kappa-deleting recombination excision circles (KRECS) puede identificar neonatos con linfopenias T y/o B graves. OBJETIVO: Cuantificar los niveles de TRECS y de KRECS de manera prospectiva a partir de muestras de sangre seca de talón para identificar de manera correcta linfopenias T y/o B. MATERIALES Y MÉTODOS: Determinación de TRECS y de KRECS mediante reacción en cadena de polimerasa multiplex en neonatos nacidos entre febrero y mayo del 2014. Los puntos de corte empleados fueron: TRECS < 15 copias/_l, KRECS < 10 copias/_l, ACTB (_-actina) > 1.000 copias/_l. Se incluyeron controles internos (ALX, ataxia) y externos (IDCG). RESULTADOS: Fueron analizadas 1.068 muestras de las 1.088 recogidas (edad gestacional media: 39 semanas [38-40]; peso al nacer medio 3.238 g [2.930-3.520]). La media (mediana, min/máx) copias/_l obtenidas fueron las siguientes; TRECS 145 (132, 8/503), KRECS 82 (71, 7/381) y ACTB 2838 (2763, 284/7710). Veinte muestras (1,87%) fueron insuficientes para el análisis. El retest fue necesario en un neonato (0,09%), confirmándose resultados normales posteriormente. Empleando puntos de corte inferiores (TREC < 8 y KREC < 4 copias/_l), todas las muestras resultaron normales y se identificaron los controles internos y externos correctamente. CONCLUSIÓN: Es el primer estudio prospectivo realizado en Espa˜na usando el ensayo TREC/KREC/ACTB para identificar linfopenias graves. Es necesario establecer puntos de corte adecuados para nuestra población, mejorar la toma de muestras, su almacenamiento y la preparación de las mismas

INTRODUCTION: Early diagnosis of primary immunodeficiency such as severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) improves outcome of affected infants/children. The measurement of T-cell receptor excision circles (TRECS) and kappadeleting recombination excision circles (KRECS) can identify neonates with severe T or B-cell lymphopenia. OBJECTIVES: To determine TRECS and KRECS levels from prospectively collected dried blood spot samples (DBS) and to correctly identify severe T and B-cell lymphopenia. MATERIAL AND METHODS: Determination of TRECS and KRECS by multiplex PCR from neonates born in two tertiary hospitals in Seville between February 2014 and May 2014. PCR cut-off levels: TRECS<15 copies/_l, KRECS<10copies/_l, ACTB (_-actin)>1000 copies/_l. Internal (XLA, ataxia telangiectasia) and external (SCID) controls were included. RESULTS: A total of 1068 out of 1088 neonates (mean GA 39 weeks (38-40) and BW 3238 g (2930-3520) were enrolled in the study. Mean (median, min/max) copies/_l, were as follows: TRECS 145 (132, 8/503), KRECS 82 (71, 7/381), and ACTB 2838 (2763, 284/7710). Twenty samples (1.87%) were insufficient. Resampling was needed in one neonate (0.09%), subsequently giving a normal result. When using lower cut-offs (TRECS<8 and KRECS<4 copies/_l), all the samples tested were normal and the internal and external controls were correctly identified. CONCLUSION: This is the first prospective pilot study in Spain using TRECS/KRECS/ACTB-assay, describing the experience and applicability of this method to identify severe lymphopenias. The ideal cut-off remains to be established in our population. Quality of sampling, storage and preparation need to be further improved

[A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopenia]. / Primer estudio piloto en España sobre el cribado neonatal de las inmunodeficiencias primarias: TRECS y KRECS identifican linfopenias T y B graves.

INTRODUCTION: Early diagnosis of primary immunodeficiency such as severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) improves outcome of affected infants/children. The measurement of T-cell receptor excision circles (TRECS) and kappa-deleting recombination excision circles (KRECS) can identify neonates with severe T or B-cell lymphopenia. OBJECTIVES: To determine TRECS and KRECS levels from prospectively collected dried blood spot samples (DBS) and to correctly identify severe T and B-cell lymphopenia. MATERIAL AND METHODS: Determination of TRECS and KRECS by multiplex PCR from neonates born in two tertiary hospitals in Seville between February 2014 and May 2014. PCR cut-off levels: TRECS<15 copies/µl, KRECS<10 copies/µl, ACTB (ß-actin)>1000 copies/µl. Internal (XLA, ataxia telangiectasia) and external (SCID) controls were included. RESULTS: A total of 1068 out of 1088 neonates (mean GA 39 weeks (38-40) and BW 3238g (2930-3520) were enrolled in the study. Mean (median, min/max) copies/µl, were as follows: TRECS 145 (132, 8/503), KRECS 82 (71, 7/381), and ACTB 2838 (2763, 284/7710). Twenty samples (1.87%) were insufficient. Resampling was needed in one neonate (0.09%), subsequently giving a normal result. When using lower cut-offs (TRECS<8 and KRECS<4 copies/µl), all the samples tested were normal and the internal and external controls were correctly identified. CONCLUSION: This is the first prospective pilot study in Spain using TRECS/KRECS/ACTB-assay, describing the experience and applicability of this method to identify severe lymphopenias. The ideal cut-off remains to be established in our population. Quality of sampling, storage and preparation need to be further improved.

Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study.

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital. There were 25 individuals in the case group and 41 in the control group. Analysis of genotypes for the methylenetetrahydrofolate reductase (MTHFR) 677CT polymorphism in women with or without risk factors for abnormal carbohydrate metabolism revealed that mothers who were homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism were more likely to have offspring with spina bifida and high levels of homocysteine, compared to the control group. The increased incidence of NTDs in mothers homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism stresses the need for careful metabolic screening in pregnant women, and, if necessary, determination of the MTHFR 677CT genotype in those mothers at risk of developing abnormal carbohydrate metabolism.

Catheter-related Mycobacterium fortuitum bloodstream infection: rapid identification using MALDI-TOF mass spectrometry.

We present the case of a 6-year-old boy diagnosed with stage III mediastinal Non Hodgkin Lymphoblastic T cell Lymphoma who suffered from catheter-related bloodstream infection (CRBI) due to Mycobacterium fortuitum whilst receiving chemotherapy. Isolation of this rare pathogen was done directly from blood culture and identification was made rapidly within 48 h using matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectro-metry as well as specific polymerase chain reaction (PCR)-reverse hybridization method. This allowed prompt directed antibiotic therapy apart from central venous catheter removal and resulted in an excellent clinical response. This case highlights the potential benefit of using MALDI-TOF mass spectrometry, a fast, cost-effective and precise methodology, in the diagnosis and subsequent management of invasive bacterial infection.

Global impact of an educational antimicrobial stewardship programme on prescribing practice in a tertiary hospital centre.

The misuse of antibiotics has been related to increased morbidity, mortality and bacterial resistance. The development of antimicrobial stewardship programmes (ASPs) has been encouraged by scientific societies as an essential measure. An educational, institutionally supported ASP was developed in our tertiary-care centre. Local guidelines on the management of infectious syndromes were created. Antimicrobial prescriptions were chosen arbitrarily weekly and counselling interviews by expert clinicians were carried out, using a paedagogic, non-restrictive methodology. Satisfaction with the interview was assessed using anonymous questionnaires. The appropriateness of antimicrobial prescriptions as well as consumption was assessed prospectively throughout the year. Feedback regarding the correct use of treatments was communicated to each participating department periodically. The improvement in antimicrobial prescription was included among the annual objectives linked to economic incentives in every department. A total of 1206 counselling interviews were carried out during the first year. Fifty-three per cent of antimicrobial prescriptions (176/332) were inappropriate when the programme started. The rate of inappropriate prescriptions continuously declined to 26.4% (107/405) in the fourth trimester (p <0.001; RR = 0.38; 95% CI, 0.23-0.43). Antimicrobial consumption decreased from 1150 defined daily doses (DDDs) per 1000 occupied bed-days in the first trimester to 852 DDDs in the fourth, reflecting a reduction in antimicrobial expenditures of 42%. A total of 352 satisfaction questionnaires were received and 98% described the advice as positive. In conclusion, the implementation of an education-based ASP achieved a significant improvement in all antimicrobial prescriptions in the centre and a reduction in antimicrobial consumption, even when no restrictive measures were implemented. The programme was highly accepted by all prescribers.

Chryseobacterium indologenes central nervous system infection in infancy: an emergent pathogen?

The isolation of Chryseobacterium indologenes as a causative micro-organism in human diseases is rare. Risk factors for infections caused by this pathogen include very young and very old age, indwelling devices, immune suppression and recent use of broad-spectrum antibiotics. Most cases suffer from bacteraemia or nosocomial pneumonia, whilst infection of the central nervous system (CNS) is extremely rare. We present a term-born infant diagnosed prenatally with holoprosencephaly and obstructive hydrocephalus, requiring post-natal ventriculoperitoneal shunt insertion. At 6 weeks of age, he suffered from Escherichia coli meningitis, showing satisfactory clinical response with antimicrobial therapy. Aged 11 months, he suffered from hyper-drainage syndrome, resulting in the removal of the shunt system. He represented 11 days post-operatively, with low-grade fever, irritability and cerebrospinal fluid (CSF) leakage. C. indologenes from CSF was isolated and antimicrobial therapy with ceftazidime and trimethoprim-sulfamethoxazole for 3 weeks resulted in good clinical response. This is the first documented community-acquired CNS infection due to C. indologenes in an infant without concomitant indwelling device or previous antibiotic pressure.

Successful management of Churg-Strauss syndrome using omalizumab as adjuvant immunomodulatory therapy: first documented pediatric case.

Churg-Strauss syndrome (CSS) is an anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis; it is extremely rare in childhood and defined according to the Chapel-Hill Consensus as an eosinophil-rich and granulomatous inflammation involving the respiratory tract and necrotizing vasculitis affecting small to medium-sized vessels. Children commonly have a history of asthma and sinusitis whilst clinical presentation typically involves pulmonary tract and less frequently skin, heart, gastrointestinal tract, and peripheral nerves. Cardiopulmonary disease is higher in children and prognosis is worse. It is associated with significant eosinophilia and raised serum IgE-levels. ANCA are only found in 25% of childhood cases. Here we report the case of a 10-year-old girl who presented to us with vomiting, abdominal pain, and weight loss, paresthesias of lower extremities and breathlessness as well as a history of asthma, sinusitis and allergic rhinitis. She was treated with corticosteroids, cyclophosphamide, intravenous immunoglobulin, mycophenolate mofetil (MMF), and rituximab. However, remission was only achieved after initiation of omalizumab therapy, a recombinant humanized anti-IgE antibody. To the best of our knowledge this is the first pediatric patient suffering from CSS successfully managed with adjuvant anti-IgE therapy resulting in the control of respiratory as well as gastrointestinal symptoms.

Guía de la Sociedad Española de Infectología Pediátrica para el diagnóstico y tratamiento de la toxoplasmosis congénita / The Spanish Society of Pediatric Infectious Diseases Guidelines for the diagnosis and treatment of congenital toxoplasmosis

La toxoplasmosis congénita es la consecuencia de la transmisión fetal por vía transplacentaria de Toxoplasma gondii tras la primoinfección materna. El riesgo de infección fetal es bajo en infecciones en el primer trimestre y va aumentando con la edad gestacional, mientras que la gravedad de la infección disminuye con esta. El diagnóstico de infección materna se realiza mediante la demostración de seroconversión o ante la presencia de IgM positiva con anticuerpos IgG de baja avidez. Las gestantes con infección demostrada deben recibir espiramicina para intentar evitar su transmisión al feto. El diagnóstico de infección fetal se realiza mediante reacción en cadena de la polimerasa (PCR) en líquido amniótico obtenido a partir de la semana 18 de gestación. Si esta prueba resulta positiva, debe iniciarse tratamiento a la embarazada con pirimetamina, sulfadiazina y ácido folínico. La mayoría de los niños infectados nacen asintomáticos pero hasta el 80% desarrolla secuelas visuales o neurológicas durante su infancia y adolescencia. El diagnóstico neonatal es complicado porque los anticuerpos IgM e IgA y la PCR en sangre y líquido cefalorraquídeo pueden ser falsamente negativos. En estos casos, el diagnóstico puede realizarse mediante la constatación de un ascenso significativo de los anticuerpos IgG o la persistencia de los mismos después del año de vida. El tratamiento neonatal con pirimetamina y sulfadiazina disminuye la posibilidad de secuelas a largo plazo. La toxoplasmosis congénita es una enfermedad prevenible mediante el cribado pregestacional y la adopción de medidas de profilaxis primaria en las gestantes seronegativas (AU)

Congenital toxoplasmosis is the result of transplacental fetal infection by Toxoplasma gondii after the primary maternal infection. The severity of the disease depends on the gestational age at transmission. First trimester infections are more severe, but less frequent, than third trimester infections. Acute maternal infection is diagnosed by seroconversion or by the detection of IgM antibodies and a low IgG avidity test. In these cases, spiramycin should be initiated to prevent transmission to the fetus. For identification of fetal infection, polymerase chain reaction (PCR) testing of amniotic fluid after 18 weeks gestation should be performed. If fetal infection is confirmed, the mothers should be treated with pyrimethamine, sulfadiazine and folinic acid. Most infants infected in utero are born with no obvious signs of toxoplasmosis, but up to 80% developed learning and visual disabilities later in life. Neonatal diagnosis with IgM/IgA antibodies or blood/cerebrospinal fluid PCR may be difficult because false-negative results frequently occur. In these cases diagnosis is possible by demonstrating a rise in IgG titers during follow-up or by the detection of antibodies beyond one year of age. Early treatment with pyrimethamine and sulfadiazine may improve the ophthalmologic and neurological outcome. Congenital toxoplasmosis is a preventable disease. Pre-pregnancy screening and appropriate counseling regarding prevention measures in seronegative women may prevent fetal infection (AU)

Variante otogénica del síndrome de Lemierre / Otogenic variant of Lemierre syndrome

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[The Spanish Society of Pediatric Infectious Diseases Guidelines for the diagnosis and treatment of congenital toxoplasmosis]. / Guía de la Sociedad Española de Infectología Pediátrica para el diagnóstico y tratamiento de la toxoplasmosis congénita.

Congenital toxoplasmosis is the result of transplacental fetal infection by Toxoplasma gondii after the primary maternal infection. The severity of the disease depends on the gestational age at transmission. First trimester infections are more severe, but less frequent, than third trimester infections. Acute maternal infection is diagnosed by seroconversion or by the detection of IgM antibodies and a low IgG avidity test. In these cases, spiramycin should be initiated to prevent transmission to the fetus. For identification of fetal infection, polymerase chain reaction (PCR) testing of amniotic fluid after 18 weeks gestation should be performed. If fetal infection is confirmed, the mothers should be treated with pyrimethamine, sulfadiazine and folinic acid. Most infants infected in utero are born with no obvious signs of toxoplasmosis, but up to 80% developed learning and visual disabilities later in life. Neonatal diagnosis with IgM/IgA antibodies or blood/cerebrospinal fluid PCR may be difficult because false-negative results frequently occur. In these cases diagnosis is possible by demonstrating a rise in IgG titers during follow-up or by the detection of antibodies beyond one year of age. Early treatment with pyrimethamine and sulfadiazine may improve the ophthalmologic and neurological outcome. Congenital toxoplasmosis is a preventable disease. Pre-pregnancy screening and appropriate counseling regarding prevention measures in seronegative women may prevent fetal infection.

Displasia ectodérmica anhidrótica asociada a déficit de lectina de unión a manosa / Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency

La lectina de unión a la manosa (mannose-binding lectin [MBL]) es una proteína sérica perteneciente al sistema inmunitario innato. Se une a los azúcares de las membranas de múltiples microorganismos, favoreciendo su opsonización y eliminación. El déficit de MBL resulta del polimorfismo del gen MBL2 y se asocia a una amplia variedad de infecciones recurrentes, incluidas las infecciones del tracto respiratorio. Presentamos un caso de displasia ectodérmica anhidrótica asociada a un déficit de MBL, inmunodeficiencia nunca descrita en pacientes afectados de displasia ectodérmica anhidrótica(AU)

Mannose-binding lectin (MBL) is a serum protein of the innate immune system.MBL enhances opsonophagocytosis by binding to carbohydrates expressed by multiple pathogens.MBL deficiency is due to polymorphisms in the structural and promoter sequences of the MBL2 gene and is associated with variety of recurrent infections, including respiratory tract infections. We present a case of anhidrotic ectodermal dysplasia associated with severe mannose-binding lectin deficiency, never described in patients with anhidrotic ectodermal dysplasia(AU)