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Articles, 10 records found
Articles 10 records found  
1.
1.2 MB LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy / Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rivière, Jacques G. (Jeffrey Modell Foundation Excellence Center) ; Plaja, Alberto (Hospital Universitari Vall d'Hebron) ; Bezdan, Daniela (Universitat Pompeu Fabra) ; Bosio, Mattia (Universitat Pompeu Fabra) ; Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ossowski, Stephan (Institute of Medical Genetics and Applied Genomics, University of Tübingen) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the LRBA gene (OMIM #614700). It was initially characterized as producing early-onset hypogammaglobulinemia, autoimmune manifestations, susceptibility to inflammatory bowel disease, and recurrent infection. [...]
2018 - 10.3389/fimmu.2018.02397
Frontiers in immunology, Vol. 9 (october 2018)  
2.
15 p, 939.3 KB Evaluating the Genetics of Common Variable Immunodeficiency : Monogenetic Model and Beyond / de Valles-Ibáñez, Guillem (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Esteve-Solé, Ana (Hospital Clínic i Provincial de Barcelona) ; Piquer, Mònica (Hospital Clínic i Provincial de Barcelona) ; González-Navarro, E. Azucena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Hernandez-Rodriguez, Jessica (Universitat Pompeu Fabra) ; Laayouni, Hafid (Universitat Pompeu Fabra) ; González-Roca, Eva (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Plaza-Martin, Ana María (Hospital Clínic i Provincial de Barcelona) ; Deyà-Martínez, Ángela (Hospital Clínic i Provincial de Barcelona) ; Martín-Nalda, Andrea (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ; Martínez Gallo, Mónica (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Garcia-Prat, Marina (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ; del Pino-Molina, Lucía (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Cusco, Ivon (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Codina-Solà, Marta (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Batlle-Masó, Laura (Universitat Pompeu Fabra) ; Solís-Moruno, Manuel (Universitat Pompeu Fabra) ; Marquès-Bonet, Tomàs (Barcelona Institute of Science and Technology (BIST)) ; Bosch, Elena (Universitat Pompeu Fabra) ; López-Granados, Eduardo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Aróstegui, Juan Ignacio (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Soler-Palacín, Pere (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ; Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Yagüe, Jordi (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Alsina, Laia (Hospital Clínic i Provincial de Barcelona) ; Juan, Manel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Casals, Ferran (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. [...]
2018 - 10.3389/fimmu.2018.00636
Frontiers in immunology, Vol. 9 (may 2018)  
3.
14 p, 441.8 KB Clinical Outcomes of a Zika Virus Mother-Child Pair Cohort in Spain / Soriano-Arandes, Antoni (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Frick, Marie Antoinette (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; García López-Hortelano, Milagros (Hospital Universitario La Paz (Madrid)) ; Sulleiro, Elena (Hospital Universitari Vall d'Hebron) ; Rodó, Carlota (Hospital Universitari Vall d'Hebron) ; Sánchez-Seco, María Paz (Instituto de Salud Carlos III) ; Cabrera-Lafuente, Marta (Hospital Universitario La Paz (Madrid)) ; Suy, Anna (Hospital Universitari Vall d'Hebron) ; De la Calle, María (Hospital Universitario La Paz (Madrid)) ; Santos, Mar (Hospital General Universitario Gregorio Marañón) ; Antolin, Eugenia (Hospital Universitario La Paz (Madrid)) ; Viñuela, María del Carmen (Hospital General Universitario Gregorio Marañón) ; Espiau, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Salazar, Ainara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Guarch-Ibáñez, Borja (Hospital Universitari de Girona Doctor Josep Trueta) ; Vázquez, Ana (Instituto de Salud Carlos III) ; Navarro-Morón, Juan (Hospital Costa del Sol (Marbella)) ; Ramos-Amador, José-Tomás (Hospital Clínico San Carlos) ; Martin-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Dueñas, Eva (Hospital General Universitario Gregorio Marañón) ; Blázquez-Gamero, Daniel (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Reques-Cosme, Resurrección (Hospital El Escorial) ; Olabarrieta, Iciar (Hospital Universitario Severo Ochoa) ; Prieto, Luis (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; De Ory, Fernando (Instituto de Salud Carlos III) ; Thorne, Claire (University College London Great Ormond Street Institute of Child Health, GOSH NIHR BRC, London WC1N 1EH, UK; (C.T.); (T.B.); (E.R.-B.)) ; Byrne, Thomas (University College London Great Ormond Street Institute of Child Health, GOSH NIHR BRC, London WC1N 1EH, UK; (C.T.); (T.B.); (E.R.-B.)) ; Ades, Anthony E. (University of Bristol, Bristol BS9 1AF, UK) ; Ruiz-Burga, Elisa (University College London Great Ormond Street Institute of Child Health) ; Giaquinto, Carlo (University of Padova) ; Garcia-Alix, Alfredo (Fundació NeNe (Madrid)) ; Carreras Moratonas, Elena (Hospital Universitari Vall d'Hebron) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Background: Zika virus (ZIKV) infection has been associated with congenital microcephaly and other neurodevelopmental abnormalities. There is little published research on the effect of maternal ZIKV infection in a non-endemic European region. [...]
2020 - 10.3390/pathogens9050352
Pathogens, Vol. 9 (may 2020)  
4.
605.4 KB Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies / Dezfouli, Mahya (Kungl. Tekniska högskolan (Suècia)) ; Bergström, Sofia (Kungl. Tekniska högskolan (Suècia)) ; Skattum, Lillemor (Clinical Immunology and Transfusion Medicine, Region Skåne (Suècia)) ; Abolhassani, Hassan (Tehran University of Medical Sciences) ; Neiman, Maja (Kungl. Tekniska högskolan (Suècia)) ; Torabi-Rahvar, Monireh (Tehran University of Medical Sciences) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martin-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ferrer Balaguer, Juana M. (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; Slade, Charlotte A. (The Walter and Eliza Hall Institute of Medical Research) ; Roos, Anja (Sint Antonius Hospital) ; López-Trascasa, Margarita (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Gonzalez-Granado, Luis I. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Allende-Martinez, Luis M. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Mizuno, Yumi (Fukuoka Children's Hospital) ; Yoshida, Yusuke (Department of Pediatrics, National Defense Medical College (Japó)) ; Friman, Vanda (Department of Infectious Diseases, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg) ; Lundgren, Åsa (Central Hospital (Suècia)) ; Aghamohammadi, Asghar (Tehran University of Medical Sciences) ; Rezaei, Nima (Tehran University of Medical Sciences) ; Hernández-Gonzalez, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; von Döbeln, Ulrika (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Truedsson, Lennart (Lund University) ; Hara, Toshiro (Fukuoka Children's Hospital) ; Nonoyama, Shigeaki (National Defense Medical College (Japó)) ; Schwenk, Jochen M. (Kungl. Tekniska högskolan (Suècia)) ; Nilsson, Peter (Kungl. Tekniska högskolan (Suècia)) ; Hammarström, Lennart (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Universitat Autònoma de Barcelona
The clinical outcomes of primary immunodeficiencies (PIDs) are greatly improved by accurate diagnosis early in life. However, it is not common to consider PIDs before the manifestation of severe clinical symptoms. [...]
2020 - 10.3389/fimmu.2020.00455
Frontiers in immunology, Vol. 11 (march 2020)  
5.
9 p, 1.2 MB Newborn Screening for SCID. Experience in Spain (Catalonia) / Argudo-Ramírez, Ana (Hospital Clínic i Provincial de Barcelona) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron) ; González de Aledo-Castillo, Jose Manuel (Hospital Clínic i Provincial de Barcelona) ; López-Galera, Rosa (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Marín-Soria, Jose Luis (Hospital Clínic i Provincial de Barcelona) ; Pajares-García, Sonia (Spain Center for Biomedical Research Network on Rare Diseases) ; Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Riviere, Jacques G. (Hospital Universitari Vall d'Hebron) ; Quintero, Yania (Hospital Clínic i Provincial de Barcelona) ; Collado, Tatiana (Hospital Clínic i Provincial de Barcelona) ; Ribes, Antonia (Spain Center for Biomedical Research Network on Rare Diseases) ; García-Villoria, Judit (Spain Center for Biomedical Research Network on Rare Diseases) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing. In Spain, a pilot study with 5000 samples was carried out in Seville in 2014; also, a research project with about 35,000 newborns will be carried out in 2021-2022 in the NBS laboratory of Eastern Andalusia. [...]
2021 - 10.3390/ijns7030046
International Journal of Neonatal Screening, Vol. 7 (july 2021)  
6.
17 p, 2.5 MB Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction / Català-Moll, Francesc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Ferreté-Bonastre, Anna G (Josep Carreras Research Institute (IJC)) ; Li, Tianlu (Josep Carreras Research Institute (IJC)) ; Weichenhan, Dieter (German Cancer Research Center (DKFZ)) ; Lutsik, Pavlo (German Cancer Research Center (DKFZ)) ; Ciudad, Laura (Josep Carreras Research Institute (IJC)) ; Álvarez-Prado, Ángel F (Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC)) ; Rodríguez-Ubreva, Javier (Josep Carreras Research Institute (IJC)) ; Klemann, Christian (University of Freiburg) ; Speckmann, Carsten (University of Freiburg) ; Vilas-Zornoza, Amaya (Universidad de Navarra) ; Abolhassani, Hassan (Karolinska University) ; Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron) ; Dieli-Crimi, Romina (Hospital Universitari Vall d'Hebron) ; Rivière, Jacques G (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Kracker, Sven (Universite de Paris) ; Hammarström, Lennart (Karolinska University) ; Prosper, Felipe (Universidad de Navarra) ; Durandy, Anne (Universite de Paris) ; Grimbacher, Bodo (University of Freiburg) ; Plass, Christoph (German Cancer Research Center (DKFZ)) ; Ballestar, Esteban (Josep Carreras Research Institute (IJC))
Activation-induced deaminase (AID) initiates antibody diversification in germinal center B cells by deaminating cytosines, leading to somatic hypermutation and class-switch recombination. Loss-of-function mutations in AID lead to hyper-IgM syndrome type 2 (HIGM2), a rare human primary antibody deficiency. [...]
2021 - 10.1093/nar/gkab322
Nucleic acids research, Vol. 49, Issue 9 (May 2021) , p. 5057-5073  
7.
14 p, 1.9 MB Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations / Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fortuny Guasch, Claudia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rey, Lourdes (Hospital Álvaro Cunqueiro (Vigo)) ; Bunney, Tom D. (University College London. Institute of Structural and Molecular Biology) ; Alsina, Laia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Esteve-Solé, Ana (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Bull, Daniel (University College London. ARUK Drug Discovery Institute) ; Anton, Maria Carmen (Hospital Clínic i Provincial de Barcelona) ; Basagaña, María (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Casals, Ferran (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Deyà-Martínez, Ángela (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Gimeno, Ramon (Institut Hospital del Mar d'Investigacions Mèdiques) ; Juan, Manel (Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut) ; Martinez-Banaclocha, Helios (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Martinez-Garcia, Juan J (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Mensa-Vilaró, Anna (Hospital Clínic i Provincial de Barcelona) ; Rabionet, Raquel (Universitat de Barcelona. Institut de Biomedicina) ; Martin-Begue, Nieves (Hospital Universitari Vall d'Hebron) ; Rudilla, Francesc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Estivill, Xavier (Quantitative Genomic Medicine Laboratories (qGenomics), Esplugues del Llobregat) ; García-Patos Briones, Vicente (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pujol, Ramon M. (Institut Hospital del Mar d'Investigacions Mèdiques) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Katan, Matilda (University College London. Institute of Structural and Molecular Biology) ; Pelegrín, Pablo (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Vicente, Asun (Hospital Sant Joan de Déu (Manresa)) ; Arostegui, Juan I. (Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut)
The online version of this article (10. 1007/s10875-020-00794-7) contains supplementary material, which is available to authorized users.
2020 - 10.1007/s10875-020-00794-7
Journal of Clinical Immunology, Vol. 40 (july 2020) , p. 987-1000  
8.
10 p, 392.2 KB Clinical Presentations and Outcomes Related to Tuberculosis in Children Younger Than 2 Years of Age in Catalonia / Soriano-Arandes, Antoni (Hospital Universitari Vall d'Hebron) ; Brugueras, Silvia (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Rodríguez Chitiva, Alejandro (Hospital Universitari Vall d'Hebron) ; Noguera-Julian, Antoni (Red de Investigación Translacional en Infectología Pediátrica (RITIP)) ; Orcau, Àngels (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron) ; Millet, Joan P. (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Vallmanya, Teresa (Hospital Arnau de Vilanova (Lleida, Catalunya)) ; Méndez, Maria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coll-Sibina, Maite (Hospital General de Granollers) ; Mayol, Lluís (Hospital Universitari de Girona Doctor Josep Trueta) ; Clopés, Asumpció (Pediatrics, Hospital Pius) ; Pineda, Valentí (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; García, Lourdes (Pediatrics, Consorci Sanitari del Maresme) ; López, Nuria (Hospital del Mar (Barcelona, Catalunya)) ; Calavia, Olga (Hospital Universitari Joan XXIII de Tarragona) ; Rius, Neus (Hospital Universitari Sant Joan de Reus (Tarragona)) ; Pérez-Porcuna, Tomás M (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Caylà, Joan A. (Foundation of TB Research Unit of Barcelona)
Introduction: Children younger than 2 years have an increased risk of complications associated with tuberculosis (TB) due to the immaturity of the innate and adaptive immune response. We aimed to identify TB clinical presentations and outcomes as well as risk factors for complications in this age group. [...]
2019 - 10.3389/fped.2019.00238
Frontiers in Pediatrics, Vol. 7 (june 2019)  
9.
16 p, 409.2 KB Epidemiology of congenital chagas disease 6 years after implementation of a public health surveillance system, Catalonia, 2010 to 2015 / Basile, L. (Servei Català de la Salut) ; Ciruela, P. (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Requena-Méndez, A. (Barcelona Institute for Global Health (ISGlobal)) ; José Vidal, M.A. (Servei Català de la Salut) ; Dopico, E. (Laboratori Clínic de l'Hospitalet. Hospitalet de Llobregat) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Sulleiro, Elena (Hospital Universitari Vall d'Hebron) ; Gascon, Joaquim (Barcelona Institute for Global Health (ISGlobal)) ; Jané, M. (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Universitat Autònoma de Barcelona
Background: Chagas disease is endemic in Latin America and affects 8 million people worldwide. In 2010, Catalonia introduced systematic public health surveillance to detect and treat congenital Chagas disease. [...]
2019 - 10.2807/1560-7917.ES.2019.24.26.19-00011
Eurosurveillance, Vol. 24 Núm. 26 (2019) , p. 1900011  
10.
0 p, 658.9 KB Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing : Expected and Unexpected Findings / Rudilla, Francesc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Jeffrey Model Foundation Excellence Center) ; Martínez Gallo, Mónica (Jeffrey Model Foundation Excellence Center) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rivière, Jacques (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Aguiló-Cucurull, Aina (Jeffrey Model Foundation Excellence Center) ; Mongay, Laura (Banc de Sang i Teixits) ; Vidal, Francisco (Instituto de Salud Carlos III) ; Solanich, Xavier (Hospital Universitari de Bellvitge) ; Irastorza, Iñaki (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Santos-Pérez, Juan Luis (Hospital Universitario Virgen de las Nieves (Granada)) ; Tercedor Sánchez, Jesús (Hospital Universitario Virgen de las Nieves (Granada)) ; Cusco, Ivon (Hospital Universitari Vall d'Hebron) ; Serra, Clara (Hospital Universitari Vall d'Hebron) ; Baz-Redón, Noelia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández Cancio, Mónica (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Carreras, Carmen (Hospital Universitari i Politècnic La Fe de València) ; Vagace, Manuel (Complejo Hospitalario Universitario de Badajoz) ; García-Patos Briones, Vicente (Hospital Universitari Vall d'Hebron) ; Pujol-Borrell, Ricardo (Jeffrey Model Foundation Excellence Center) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. The increasing use of next-generation sequencing (NGS) technology has greatly facilitated identification of genetic defects in PID patients in daily clinical practice. [...]
2019 - 10.3389/fimmu.2019.02325
Frontiers in immunology, Vol. 10 (january 2019) , p. 2325  

See also: similar author names
4 Martin-Nalda, A.
11 Martin-Nalda, Andrea
4 Martín-Nalda, A.
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