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3. Bosutinib in Resistant and Intolerant Pediatric Patients With Chronic Phase Chronic Myeloid Leukemia: Results From the Phase I Part of Study ITCC054/COG AAML1921

Author

Apotheek O&O&O, Cancer, Brivio, Erica, Pennesi, Edoardo, Willemse, Marieke E, Huitema, Alwin D R, Jiang, Yilin, van Tinteren, Harm D R, van der Velden, Vincent H J, Beverloo, Berna H, den Boer, Monique L, Rammeloo, Lukas A J, Hudson, Chad, Heerema, Nyla, Kowalski, Karey, Zhao, Huadong, Kuttschreuter, Luke, Bautista Sirvent, Francisco J, Bukowinski, Andrew, Rizzari, Carmelo, Pollard, Jessica, Murillo-Sanjuán, Laura, Kutny, Matthew, Zarnegar-Lumley, Sara, Redell, Michele, Cooper, Stacy, Bertrand, Yves, Petit, Arnaud, Krystal, Julie, Metzler, Markus, Lancaster, Donna, Bourquin, Jean-Pierre, Motwani, Jayashree, van der Sluis, Inge M, Locatelli, Franco, Roth, Michael E, Hijiya, Nobuko, Zwaan, Christian M, Apotheek O&O&O, Cancer, Brivio, Erica, Pennesi, Edoardo, Willemse, Marieke E, Huitema, Alwin D R, Jiang, Yilin, van Tinteren, Harm D R, van der Velden, Vincent H J, Beverloo, Berna H, den Boer, Monique L, Rammeloo, Lukas A J, Hudson, Chad, Heerema, Nyla, Kowalski, Karey, Zhao, Huadong, Kuttschreuter, Luke, Bautista Sirvent, Francisco J, Bukowinski, Andrew, Rizzari, Carmelo, Pollard, Jessica, Murillo-Sanjuán, Laura, Kutny, Matthew, Zarnegar-Lumley, Sara, Redell, Michele, Cooper, Stacy, Bertrand, Yves, Petit, Arnaud, Krystal, Julie, Metzler, Markus, Lancaster, Donna, Bourquin, Jean-Pierre, Motwani, Jayashree, van der Sluis, Inge M, Locatelli, Franco, Roth, Michael E, Hijiya, Nobuko, and Zwaan, Christian M

Published
2024

4. Bosutinib in Resistant and Intolerant Pediatric Patients With Chronic Phase Chronic Myeloid Leukemia:Results From the Phase I Part of Study ITCC054/COG AAML1921

Author

Brivio, Erica, Pennesi, Edoardo, Willemse, Marieke E., Huitema, Alwin D.R., Jiang, Yilin, Van Tinteren, Harm D.R., Van Der Velden, Vincent H.J., Beverloo, Berna H., Den Boer, Monique L., Rammeloo, Lukas A.J., Hudson, Chad, Heerema, Nyla, Kowalski, Karey, Zhao, Huadong, Kuttschreuter, Luke, Bautista Sirvent, Francisco J., Bukowinski, Andrew, Rizzari, Carmelo, Pollard, Jessica, Murillo-Sanjuán, Laura, Kutny, Matthew, Zarnegar-Lumley, Sara, Redell, Michele, Cooper, Stacy, Bertrand, Yves, Petit, Arnaud, Krystal, Julie, Metzler, Markus, Lancaster, Donna, Bourquin, Jean Pierre, Motwani, Jayashree, Van Der Sluis, Inge M., Locatelli, Franco, Roth, Michael E., Hijiya, Nobuko, Zwaan, Christian M., Brivio, Erica, Pennesi, Edoardo, Willemse, Marieke E., Huitema, Alwin D.R., Jiang, Yilin, Van Tinteren, Harm D.R., Van Der Velden, Vincent H.J., Beverloo, Berna H., Den Boer, Monique L., Rammeloo, Lukas A.J., Hudson, Chad, Heerema, Nyla, Kowalski, Karey, Zhao, Huadong, Kuttschreuter, Luke, Bautista Sirvent, Francisco J., Bukowinski, Andrew, Rizzari, Carmelo, Pollard, Jessica, Murillo-Sanjuán, Laura, Kutny, Matthew, Zarnegar-Lumley, Sara, Redell, Michele, Cooper, Stacy, Bertrand, Yves, Petit, Arnaud, Krystal, Julie, Metzler, Markus, Lancaster, Donna, Bourquin, Jean Pierre, Motwani, Jayashree, Van Der Sluis, Inge M., Locatelli, Franco, Roth, Michael E., Hijiya, Nobuko, and Zwaan, Christian M.

Abstract

PURPOSE Bosutinib is approved for adults with chronic myeloid leukemia (CML): 400 mg once daily in newly diagnosed (ND); 500 mg once daily in resistant/intolerant (R/I) patients. Bosutinib has a different tolerability profile than other tyrosine kinase inhibitors (TKIs) and potentially less impact on growth (preclinical data). The primary objective of this first-in-child trial was to determine the recommended phase II dose (RP2D) for pediatric R/I and ND patients. PATIENTS AND METHODS In the phase I part of this international, open-label trial (ClinicalTrials.gov identifier: NCT04258943), children age 1-18 years with R/I (per European LeukemiaNet 2013) Ph+ CML were enrolled using a 6 + 4 design, testing 300, 350, and 400 mg/m2 once daily with food. The RP2D was the dose resulting in 0/6 or 1/10 dose-limiting toxicities (DLTs) during the first cycle and achieving adult target AUC levels for the respective indication. As ND participants were only enrolled in phase II, the ND RP2D was selected based on data from R/I patients. Results Thirty patients were enrolled; 27 were evaluable for DLT: six at 300 mg/m2, 11 at 350 mg/m2 (one DLT), and 10 at 400 mg/m2 (one DLT). The mean AUCs at 300 mg/m2, 350 mg/m2, and 400 mg/m2 were 2.20 g h/mL, 2.52 g h/mL, and 2.66 g h/mL, respectively. The most common adverse event was diarrhea (93%; ≥grade 3: 11%). Seven patients stopped because of intolerance and eight because of insufficient response. Complete cytogenetic and major molecular response to bosutinib appeared comparable with other published phase I/II trials with second-generation TKIs in children. CONCLUSION Bosutinib was safe and effective. The pediatric RP2D was 400 mg/m2 once daily (max 600 mg/d) with food in R/I patients and 300 mg/m2 once daily (max 500 mg/d) with food in ND patients, which achieved targeted exposures as per adult experience.

Published
2024

5. OUTCOMES OF HEMATOPOIETIC STEM CELL TRANSPLANTATION IN PEDIATRIC PATIENTS WITH MYELODYSPLASTIC SYNDROME AND ACUTE MYELOID LEUKEMIA SECONDARY TO INHERITED BONE MARROW FAILURE SYNDROMES

Author

Sanjuán, Laura Murillo, primary, Luz Uria-Oficialdegui, María, additional, Hidalgo-Gómez, Gloria, additional, García, Laura Alonso, additional, Romero, Melissa Panesso, additional, Carabante, María Isabel Benítez, additional, Blanco, Margarita Ortega, additional, and Díaz-De-Heredia, Cristina, additional

Published
2023
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6. P718: EPIGENOME PROFILING REVEALS ABERRANT DNA METHYLATION SIGNATURE IN GATA2 DEFICIENCY

Author

Marin-Bejar, Oskar, primary, Romero-Moya, Damia, additional, Rodriguez-Ubreva, Javier, additional, Distefano, Maximiliano, additional, Lessi, Francesca, additional, Aretini, Paolo, additional, Liquori, Alessandro, additional, Castaño, Julio, additional, Kozyra, Emilia, additional, Kotmayer, Lili, additional, Bueno, Clara, additional, Cervera, José, additional, Carlos Rodriguez-Gallego, José, additional, F Nomdedeu, Josep, additional, Murillo-Sanjuán, Laura, additional, Díaz de Heredia, Cristina, additional, Pérez-Martinez, Antonio, additional, López-Cardenas, Félix, additional, Martínez-Laperche, Carolina, additional, Dorado-Herrero, Nieves, additional, M Marco, Francisco, additional, Prósper, Felipe, additional, Menendez, Pablo, additional, Valcárcel, David, additional, Ballestar, Esteban, additional, Bödör, Csaba, additional, Bigas, Anna, additional, Catalá, Albert, additional, W Wlodarski, Marcin, additional, and Giorgetti, Alessandra, additional

Published
2023
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7. P676: UPDATED RESULTS FROM THE TRIAL ITCC-054/COG-AAML1921: BOSUTINIB IN NEWLY DIAGNOSED AND RESISTANT/INTOLERANT PEDIATRIC PATIENTS WITH CHRONIC MYELOID LEUKEMIA

Author

Brivio, Erica, primary, Pennesi, Edoardo, additional, Willemse, Marieke, additional, Jiang, Yilin, additional, van der Velden, Vincent, additional, Beverloo, Berna, additional, Hudson, Chad, additional, Kuttschreuter, Luke, additional, van der Sluis, Inge, additional, Brethon, Benoît, additional, Bautista, Francisco, additional, J. Burke, Michael, additional, Heerema, Nyla, additional, Bukowinski, Andrew, additional, Cooper, Stacy, additional, Pollard, Jessica, additional, Nagasubramani, Ramamoorthy, additional, Redell, Michele, additional, Bourquin, Jean-Pierre, additional, Pais, Ray, additional, Frediani, Jamie, additional, Batra, Sandeep, additional, Bertorello, Nicoletta, additional, Boklan, Jessica, additional, Kheradpour, Albert, additional, Kyono, Wade, additional, Kowalski, Karey, additional, Mizukawa, Benjamin, additional, Lancaster, Donna, additional, Murillo-Sanjuán, Laura, additional, Krystal, Julie, additional, Bertrand, Yves, additional, Huitema, Alwin, additional, van Tinteren, Harm, additional, Locatelli, Franco, additional, Roth, Michael, additional, Hijiya, Nobuko, additional, and Zwaan, Michel, additional

Published
2023
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8. Bosutinib in Resistant and Intolerant Pediatric Patients With Chronic Phase Chronic Myeloid Leukemia: Results From the Phase I Part of Study ITCC054/COG AAML1921.

Author

Brivio, Erica, Pennesi, Edoardo, Willemse, Marieke E., Huitema, Alwin D.R., Jiang, Yilin, van Tinteren, Harm D.R., van der Velden, Vincent H.J., Beverloo, Berna H., den Boer, Monique L., Rammeloo, Lukas A.J., Hudson, Chad, Heerema, Nyla, Kowalski, Karey, Zhao, Huadong, Kuttschreuter, Luke, Bautista Sirvent, Francisco J., Bukowinski, Andrew, Rizzari, Carmelo, Pollard, Jessica, and Murillo-Sanjuán, Laura

Published
2024
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10. METROMINUTO

Author

Dominguez Loeda, Sergio, primary, Clemente Granados, Anna, additional, Fernandez Armas, Alba, additional, Flores Gonzalo, Janire, additional, Martinez Baltasar, Pablo, additional, Martínez Ruiz, Ariadna, additional, Michel Riddle, Tomás Alejandro, additional, Mir Sanjuán, Laura, additional, Monteagudo Martinez, Amaia, additional, and Morales Cánovas, Antonio, additional

Published
2023
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11. Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency

Author

Marin-Bejar, Oskar, primary, Romero-Moya, Damia, additional, Rodriguez-Ubreva, Javier, additional, Distefano, Maximiliano, additional, Lessi, Francesca, additional, Aretini, Paolo, additional, Liquori, Alessandro, additional, Castaño, Julio, additional, Kozyra, Emilia, additional, Kotmayer, Lili, additional, Bueno, Clara, additional, Cervera, José, additional, Rodriguez-Gallego, José Carlos, additional, Nomdedeu, Josep F, additional, Murillo-Sanjuán, Laura, additional, De Heredia, Cristina Díaz, additional, Pérez-Martinez, Antonio, additional, López-Cadenas, Félix, additional, Martínez-Laperche, Carolina, additional, Dorado-Herrero, Nieves, additional, Marco, Francisco M, additional, Prósper, Felipe, additional, Menendez, Pablo, additional, Valcárcel, David, additional, Ballestar, Esteban, additional, Bödör, Csaba, additional, Bigas, Anna, additional, Catalá, Albert, additional, Wlodarski, Marcin W, additional, and Giorgetti, Alessandra, additional

Published
2023
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12. Epigenome profiling reveals an aberrant DNA methylation signature in GATA2 deficiency

Author

Marin-Bejar, Oskar, Romero Moya, Damià, Rodríguez Ubreva, Javier, Distefano, Maximiliano, Lessi, Francesca, Aretini, Paolo, Liquori, Alessandro, Castaño, Julio, Kozyra, Emilia, Kotmayer, Lili, Bueno, Clara, Cervera, José, Rodriguez-Gallego, José Carlos, Nomdedéu Guinot, Josep Francesc, Murillo-Sanjuán, Laura, Díaz de Heredia, Cristina, Pérez-Martínez, Antonio, López-Cardenas, Félix, Martínez-Laperche, Carolina, Dorado-Herrero, Nieves, Marco, Francisco M., Prósper, Felipe, Menendez, Pablo, Valcárcel, David, Ballestar Tarín, Esteban, Bödör, Csaba, Bigas Salvans, Anna, Català, Albert, Wlodarski, Marcin W, and Giorgetti, Alessandra

Subjects
Myeloid leukemia, Leucèmia mieloide, Mutació (Biologia), Epigenetics, Mutation (Biology), Epigenètica
Abstract

GATA2 deficiency is a complex multi-system disorder with high risk of developing myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) with a nearly complete lifetime penetrance1, 2. GATA2 carriers show a highly variable expressivity, with some individuals developing early-onset MDS, while others, remaining asymptomatic throughout life. Although no prognostic biomarkers exist, it is likely that both cooperating genetic and epigenetic drivers shape the course of the disease3. Despite advances in the identification of recurrent somatic mutations in a set of leukemia driver genes (i.e. STAG2, SETBP1, ASXL1 and ETV6), there are major gaps in understanding the molecular mechanisms associated with leukemic progression in GATA2 carriers4. Moreover, DNA methylation alterations contribute to the initiation and expansion of leukemic clones and aberrant hypermethylation occurs in adult patients with MDS and AML5, 6. However, to date, a genome-wide DNA methylome analysis in GATA2 patients has not been performed.

Published
2023

13. Las Artes Escénicas en la escuela Primaria: una revisión transversal

Author

Picar Sanjuán, Laura, Castillo-Olivares Barberán, José María, and Grado En Maestro En Educación Primaria

Subjects
juego dramático, dramatización, Artes escénicas (AAEE), Necesidades educativas especiales (NEAE), Inteligencias Múltiples (IM)
Abstract

Este trabajo de fin de grado expresa, a través de diversos estudios y autores que lo avalan, la importancia de la educación artística, en concreto, de las artes escénicas y el teatro en la educación, así como su impacto positivo en el desarrollo del alumnado, que tiene cabida en cualquier etapa educativa. Todo el mundo se puede beneficiar del arte, además, tiene cierto aporte en otras áreas, por lo que es una enseñanza transversal y flexible, que se adapta a todas las personas y circunstancias. También destacaremos su importancia para el trabajo con el alumnado NEAE, así como su factor de carácter inclusivo y cooperativo que destaca en el proceso evolutivo de los/as niños/as, a través del desarrollo de habilidades sociales y cognitivas, que se trasladan a una base de preparación para el mundo real y los retos emocionales a los que nos enfrentamos día a día This final degree project expresses, through various studies and authors who endorse it, the importance of arts education, specifically performing arts and theatre in education, as well as its positive impact on the development of students, which has a place at any educational stage. Everyone can benefit from art, and it also has a certain contribution in other areas, so it is a transversal and flexible teaching, which adapts to all people and circumstances. We will also highlight its importance for working with SEN students, as well as its inclusive and cooperative nature that stands out in the evolutionary process of children, through the development of social and cognitive skills, which are transferred to a basis of preparation for the real world and the emotional challenges we face every day

Published
2022

14. A Phase I/II Study of Bosutinib in Pediatric Patients with Resistant/Intolerant or Newly Diagnosed Philadelphia Chromosome-Positive Chronic Myeloid Leukemia, Study ITCC (Innovative Therapies for Children with Cancer European Consortium) 054 and COG (Children's Oncology Group Consortium) AAML1921: Results from the Phase I Trial in Resistant/Intolerant Patients

Author

Pennesi, Edoardo, primary, Brivio, Erica, additional, Willemse, Marieke E., additional, Huitema, Alwin D. R., additional, Chandra, Saurabh, additional, Vijayakumar, Ashwini, additional, Van Der Velden, Vincent H.J., additional, Beverloo, H. Berna, additional, Durairaj, Chandra, additional, Viqueira, Andrea, additional, Ingrosso, Antonella, additional, Locatelli, Franco, additional, Motwani, Jayashree, additional, Bourquin, Jean-Pierre, additional, Bautista Sirvent, Francisco J., additional, Rizzari, Carmelo, additional, Petit, Arnaud, additional, Lancaster, Donna, additional, Metzler, Markus, additional, Bertrand, Yves, additional, Murillo-Sanjuán, Laura, additional, Bukowkinski, Andrew J., additional, Krystal, Julie, additional, Van Der Sluis, Inge M., additional, Roth, Michael E., additional, Van Tinteren, Harm, additional, Hijiya, Nobuko, additional, and Zwaan, Christian M., additional

Published
2021
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16. 50 años del programa de cribado neonatal en Cataluña

Author

Marín Soria, José Luis, López Galera, Rosa María, Argudo Ramírez, Ana, González de Aledo Castillo, Jose Manuel, Pajares García, Sonia, Navarro Sastre, Aleix, Hernandez Pérez, Jose Mª, Mogas Viñals, Eduardo, Giralt Arnaiz, Marina, Campistol Plana, Jaume, Blanco Álvarez, Adoración, Murillo Sanjuán, Laura, García Volpe, C., Parra Martínez, Alba, Asensio de la Cruz, Óscar, Yeste Fernández, Diego, Clemente León, María, García Cazorla, Ángels, Beneitez Pastor, David, Roué, Gaël, Velasco Puyó, Pablo, Mañú Pereira, María del Mar, Toro Riera, M. del, Ferrer, R., de los Santos Mercedes, M., Ruiz Hernández, Carlos José, Soler Palacín, Pere, Vidal Benede, Mª José, Fernández Bardon, Rosa Mª, Asso Ministral, Laia, Cabezas Peña, Carmen, Ribes Rubió, Antònia, Gort Mas, Laura, García Villoria, Judit, Gartner, Silvia, Rovira Amigo, Sandra, García González, Miguel, Cols Roig, María, Costa Colomer, Jordi, Badenas, Cèlia, Campos Martorell, Ariadna, Ortuño Cabrero, Ana, Tazón, Barbara, Murciano, Thais, Díaz de Heredia Rubio, C., Vives Corrons, Joan Lluís, Arranz, José Antonio, Carnicer Cáceres, Clara, Ormazabal Herrero, Aida, Artuch Iriberri, Rafael, Rivière, Jacques G., Martínez Gallo, Mònica, Prats, Blanca, Armelles Sebastia, Mercedes, Jané Checa, Mireia, Sierra March, Cristina, Meavilla Olivas, S., Martín Nalda, Andrea, Colobran Oriol, Roger, Casals Senent, Teresa, Marín Soria, José Luis, López Galera, Rosa María, Argudo Ramírez, Ana, González de Aledo Castillo, Jose Manuel, Pajares García, Sonia, Navarro Sastre, Aleix, Hernandez Pérez, Jose Mª, Mogas Viñals, Eduardo, Giralt Arnaiz, Marina, Campistol Plana, Jaume, Blanco Álvarez, Adoración, Murillo Sanjuán, Laura, García Volpe, C., Parra Martínez, Alba, Asensio de la Cruz, Óscar, Yeste Fernández, Diego, Clemente León, María, García Cazorla, Ángels, Beneitez Pastor, David, Roué, Gaël, Velasco Puyó, Pablo, Mañú Pereira, María del Mar, Toro Riera, M. del, Ferrer, R., de los Santos Mercedes, M., Ruiz Hernández, Carlos José, Soler Palacín, Pere, Vidal Benede, Mª José, Fernández Bardon, Rosa Mª, Asso Ministral, Laia, Cabezas Peña, Carmen, Ribes Rubió, Antònia, Gort Mas, Laura, García Villoria, Judit, Gartner, Silvia, Rovira Amigo, Sandra, García González, Miguel, Cols Roig, María, Costa Colomer, Jordi, Badenas, Cèlia, Campos Martorell, Ariadna, Ortuño Cabrero, Ana, Tazón, Barbara, Murciano, Thais, Díaz de Heredia Rubio, C., Vives Corrons, Joan Lluís, Arranz, José Antonio, Carnicer Cáceres, Clara, Ormazabal Herrero, Aida, Artuch Iriberri, Rafael, Rivière, Jacques G., Martínez Gallo, Mònica, Prats, Blanca, Armelles Sebastia, Mercedes, Jané Checa, Mireia, Sierra March, Cristina, Meavilla Olivas, S., Martín Nalda, Andrea, Colobran Oriol, Roger, and Casals Senent, Teresa

Abstract

The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation. That is how the Institute of Clinical Biochemistry was born, whose aims were diagnosis, research and teaching, along with the spirit of contributing to the prevention of mental retardation. The CNSP began with the detection of phenylketonuria (PKU), and, in 1982, the Program was expanded with the inclusion of congenital hypothyroidism detection. Towards 1990, the Program covered almost 100% of all newborns (NB) in Catalonia. In 1999, the CNSP was expanded with the incorporation of cystic fibrosis. It took fourteen years, until 2013, to make the largest expansion so far, with the incorporation of 19 metabolic diseases to the screening panel. The detection of sickle cell disease began in 2015 and in 2017 the detection of severe combined immunodeficiency was included. Currently, the CNSP includes 24 diseases in its main panel. Since 1969, 2,787,807 NBs have been screened, of whom 1,724 have been diagnosed with any of these diseases, and 252 of other disorders by differential diagnosis with those included in the main panel. The global prevalence is 1: 1,617 NBs affected by any of the diseases included in the CNSP and 1: 1,140 NBs if incidental findings diagnosed through the CNSP are included., El Programa de Cribado Neonatal de Cataluña (PCNC) se inició en el año 1969, en Barcelona, impulsado por el Dr. Juan Sabater Tobella y apoyado por la Diputación de Barcelona y la Fundación Juan March. Así nació el Instituto de Bioquímica Clínica para acometer funciones asistenciales, de investigación y docencia, con el espíritu de contribuir a la prevención del retraso mental. El PCNC se inició con la detección de la fenilcetonuria (PKU) y en el año 1982 se amplió con la detección del hipotiroidismo congénito. Hacia el año 1990 la cobertura territorial llegó casi al 100% de todos los recién nacidos en Cataluña. En 1999 se amplió el PCNC con la incorporación de la fibrosis quística y tras catorce años, en 2013, se realizó la ampliación más numerosa hasta ahora, con la incorporación de la detección de 19 enfermedades metabólicas hereditarias. En el año 2015 comenzó la detección de la enfermedad de células falciformes y en el 2017 la detección de la inmunodeficiencia combinada grave. Actualmente, el PCNC incluye la detección de 24 enfermedades. Desde su inicio en el año 1969, se han cribado 2.787.807 recién nacidos, de los cuales 1.724 han sido diagnosticados de alguna de las 24 enfermedades que componen nuestro panel principal y 252 por diagnóstico diferencial de las primeras. En total la prevalencia global es de 1:1.617 RN afectos de alguna de las enfermedades incluidas en el PCNC y de 1:1.140 RN si se incluyen los hallazgos incidentales encontrados.

Published
2020

17. Lesiones cutáneas neonatales como debut de enfermedad sistémica

Author

Laliena Aznar, S., Murillo Sanjuán, Laura, Martínez Faci, C., Guerrero Laleona, C., Rodríguez-Vigil Iturrate, Carmen, Muñoz Mellado, A., Laliena Aznar, S., Murillo Sanjuán, Laura, Martínez Faci, C., Guerrero Laleona, C., Rodríguez-Vigil Iturrate, Carmen, and Muñoz Mellado, A.

Published
2017

22. Gender-related invasion differences associated with mRNA expression levels of melatonin membrane receptors in colorectal cancer

Author

León, Josefa, primary, Casado, Jorge, additional, Carazo, Ángel, additional, Sanjuán, Laura, additional, Maté, Ana, additional, Muñoz de Rueda, Paloma, additional, de la Cueva, Paloma, additional, Quiles, Rosa, additional, Ruíz, Sergio, additional, Ruíz-Extremera, Ángela, additional, and Salmerón, Javier, additional

Published
2011
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23. [Serratia infections, should we think about primary immunodeficiencies?]

Author

Montaner Ramón A, Murillo Sanjuán L, Martínez Faci C, Guerrero Laleona C, and Rodríguez-Vigil Iturrate C

Subjects
Adolescent, Child, Child, Preschool, Granulomatous Disease, Chronic diagnosis, Humans, Male, Granulomatous Disease, Chronic complications, Serratia Infections immunology
Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency with an incidence of 1/200,000-250,000 live births. CGD affects mainly male patients, most of the mutations being X-linked, and autosomal recessive forms occur more frequently in communities with greater numbers of consanguineous marriages. CGD is characterized by sensitivity to recurrent and severe bacterial and fungal infections, with formation of granulomas due to the inability of phagocytes to generate reactive oxygen compounds, necessary for the intracellular death of phagocytic microorganisms. We report three cases of CGD in which Serratia marcescens was isolated, and after detailed anamnesis and performance of neutrophil function tests, a molecular diagnosis of the disease was reached. CGD can be manifested in a wide variety of ways, so that high suspicion and a meticulous anamnesis are essential to reach a diagnosis., (Sociedad Argentina de Pediatría.)

Published
2017
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