المؤلفون: Aleksandra Szczawińska-Popłonyk, Katarzyna Tąpolska-Jóźwiak, Eyal Schwartzmann, Barbara Pietrucha

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: ataxia-telangiectasia, inborn errors of immunity, syndromic immunodeficiency, infection, immune dysregulation, malignancy, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.972952/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/2998914beb704ecfaa904e76c85b98fc

المؤلفون: Saettini, Francesco, Fazio, Grazia, Bonati, Maria Teresa, Moratto, Daniele, Massa, Valentina, Di Fede, Elisabetta, Castiglioni, Silvia, Marchetti, Daniela, Chiarini, Marco, Sottini, Alessandra, Iascone, Maria, Cazzaniga, Giovanni, Imberti, Luisa, Biondi, Andrea, Gervasini, Cristina, Badolato, Raffaele

المساهمون: F. Saettini, G. Fazio, M.T. Bonati, D. Moratto, V. Massa, E. Di Fede, S. Castiglioni, D. Marchetti, M. Chiarini, A. Sottini, M. Iascone, G. Cazzaniga, L. Imberti, A. Biondi, C. Gervasini, R. Badolato

مصطلحات موضوعية: CREBBP, EP300, inborn errors of immunity, Rubinstein–Taybi syndrome, syndromic immunodeficiency, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/35266289; info:eu-repo/semantics/altIdentifier/wos/WOS:000766384600001; volume:188; issue:7; firstpage:2129; lastpage:2134; numberofpages:6; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/2434/915652; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125947521

الاتاحة: https://hdl.handle.net/2434/915652
https://doi.org/10.1002/ajmg.a.62719

المؤلفون: Guerra F., Saettini F., Biondi A.

المساهمون: Guerra, F, Saettini, F, Biondi, A

مصطلحات موضوعية: Hypogammaglobulinemia, Inborn errors of immunity, Jacobsen syndrome, Rubinstein-Taybi syndrome, Syndromic immunodeficiency

وصف الملف: STAMPA

Relation: volume:42; issue:9; firstpage:569; lastpage:574; numberofpages:6; journal:MEDICO E BAMBINO; https://hdl.handle.net/10281/477005; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85181248958

الاتاحة: https://hdl.handle.net/10281/477005
https://doi.org/10.53126/MEB42569

المؤلفون: Martire, Baldassarre, Azzari, Chiara, Badolato, Raffaele, Canessa, Clementina, Cirillo, Emilia, Gallo, Vera, Graziani, Simona, Lorenzini, Tiziana, Milito, Cinzia, Panza, Raffaella, Moschese, Viviana

المساهمون: Martire, Baldassarre, Azzari, Chiara, Badolato, Raffaele, Canessa, Clementina, Cirillo, Emilia, Gallo, Vera, Graziani, Simona, Lorenzini, Tiziana, Milito, Cinzia, Panza, Raffaella, Moschese, Viviana

مصطلحات موضوعية: Primary immunodeficiency, Secondary immunodeficiency, Syndromic immunodeficiency, Vaccination, Adult, Bacterial Infection, Bacterial Vaccine, Child, Health Policy, Human, Immunization Schedule, Immunologic Deficiency Syndrome, Italy, Process Assessment (Health Care), Vaccines, Inactivated, Viral Vaccine, Virus Disease, Immunocompromised Host, Practice Guidelines as Topic, Molecular Medicine, Immunology and Microbiology (all), Veterinary (all), Public Health, Environmental and Occupational Health, Infectious Diseases

Relation: info:eu-repo/semantics/altIdentifier/pmid/29426658; info:eu-repo/semantics/altIdentifier/wos/WOS:000435060600022; volume:36; issue:24; firstpage:3541; lastpage:3554; numberofpages:14; journal:VACCINE; http://hdl.handle.net/11573/1183897; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044510585

الاتاحة: http://hdl.handle.net/11573/1183897
https://doi.org/10.1016/j.vaccine.2018.01.061

المؤلفون: Saettini F., Radaelli S., Ocello L., Ferrari G. M., Corti P., Dell'Acqua F., Ippolito D., Foresti S., Gervasini C., Badolato R., Biondi A.

المساهمون: Saettini, F, Radaelli, S, Ocello, L, Ferrari, G, Corti, P, Dell'Acqua, F, Ippolito, D, Foresti, S, Gervasini, C, Badolato, R, Biondi, A

مصطلحات موضوعية: Combined immunodeficiency, hemophagocytic lymphohystiocytosi, HSV-1, Rubinstein Taybi syndrome, syndromic immunodeficiency

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34018455; info:eu-repo/semantics/altIdentifier/wos/WOS:000652773900001; volume:39; issue:1; firstpage:74; lastpage:79; numberofpages:6; journal:PEDIATRIC HEMATOLOGY AND ONCOLOGY; http://hdl.handle.net/10281/336793; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106245476

الاتاحة: http://hdl.handle.net/10281/336793
https://doi.org/10.1080/08880018.2021.1928802

المؤلفون: Francesco Saettini, Grazia Fazio, Maria Teresa Bonati, Daniele Moratto, Valentina Massa, Elisabetta Di Fede, Silvia Castiglioni, Daniela Marchetti, Marco Chiarini, Alessandra Sottini, Maria Iascone, Giovanni Cazzaniga, Luisa Imberti, Andrea Biondi, Cristina Gervasini, Raffaele Badolato

المساهمون: Saettini, F, Fazio, G, Bonati, M, Moratto, D, Massa, V, Di Fede, E, Castiglioni, S, Marchetti, D, Chiarini, M, Sottini, A, Iascone, M, Cazzaniga, G, Imberti, L, Biondi, A, Gervasini, C, Badolato, R

مصطلحات موضوعية: EP300, Rubinstein–Taybi syndrome, inborn errors of immunity, Genetics, CREBBP, syndromic immunodeficiency, Genetics (clinical)

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5a2de2cab9b81da25a361f2c5a90d6
http://hdl.handle.net/10281/363120

المؤلفون: Sergio Foresti, S Radaelli, Andrea Biondi, Giulia Maria Ferrari, L Ocello, Davide Ippolito, Paola Corti, Cristina Gervasini, Raffaele Badolato, Francesco Saettini, F Dell'Acqua

المساهمون: Saettini, F, Radaelli, S, Ocello, L, Ferrari, G, Corti, P, Dell'Acqua, F, Ippolito, D, Foresti, S, Gervasini, C, Badolato, R, Biondi, A

المصدر: Pediatric hematology and oncology. 39(1)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, hemophagocytic lymphohystiocytosis, Disease, Rubinstein Taybi syndrome, Lymphohistiocytosis, Hemophagocytic, 03 medical and health sciences, Combined immunodeficiency, HSV-1, syndromic immunodeficiency, 0302 clinical medicine, Herpes virus, Intellectual disability, medicine, Humans, Craniofacial, EP300, Immunodeficiency, Rubinstein-Taybi Syndrome, Rubinstein–Taybi syndrome, business.industry, Mortality rate, Hematology, Herpesviridae Infections, medicine.disease, hemophagocytic lymphohystiocytosi, Oncology, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, business, 030215 immunology

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6262574cc7f85175f92e9685c9e4a7c7
https://pubmed.ncbi.nlm.nih.gov/34018455

المؤلفون: Manuela Cortesi, Elisabetta Prada, Davide Montin, Fabio Cardinale, Alessia Morreale, Silvia Ricci, Antonio Marzollo, Mathilde Nizon, Igor Romaniouk, Donatella Milani, Richard Herriot, Raffaele Badolato, Francesco Saettini, Cristina Gervasini, Daniele Zama, Marie Vincent, Andrea Biondi, Vassilios Lougaris, Elena Domínguez-Garrido, Rika Kosaki

المساهمون: Saettini, F, Herriot, R, Prada, E, Nizon, M, Zama, D, Marzollo, A, Romaniouk, I, Lougaris, V, Cortesi, M, Morreale, A, Kosaki, R, Cardinale, F, Ricci, S, Dominguez-Garrido, E, Montin, D, Vincent, M, Milani, D, Biondi, A, Gervasini, C, Badolato, R, Saettini F., Herriot R., Prada E., Nizon M., Zama D., Marzollo A., Romaniouk I., Lougaris V., Cortesi M., Morreale A., Kosaki R., Cardinale F., Ricci S., Dominguez-Garrido E., Montin D., Vincent M., Milani D., Biondi A., Gervasini C., Badolato R.

مصطلحات موضوعية: Male, Pediatrics, lymphoproliferation, T-Lymphocytes, Autoimmunity, medicine.disease_cause, Cohort Studies, Hypogammaglobulinemia, Medical microbiology, Prevalence, Immunology and Allergy, Child, Immunodeficiency, Rubinstein-Taybi Syndrome, EP300, B cell, B-Lymphocytes, humoral defects, Incidence, B-Lymphocyte, humoral defect, Middle Aged, CREBBP, syndromic immunodeficiency, Immunoglobulin Isotypes, Phenotype, Immune System Diseases, Child, Preschool, Cohort, Female, Disease Susceptibility, Human, Cohort study, Adult, medicine.medical_specialty, Rubinstein–Taybi syndrome, Adolescent, Immune System Disease, hypogammaglobulinemia, Immunology, Genetic Association Studie, Young Adult, antibody deficiency, B cells, medicine, Humans, Genetic Association Studies, antibody deficiency, B cells, CREBBP, EP300, humoral defects, lymphoproliferation, Rubinstein–Taybi syndrome, syndromic immunodeficiency, business.industry, Infant, Biomarker, Immune dysregulation, medicine.disease, Immunoglobulin Isotype, T-Lymphocyte, Mutation, Primary immunodeficiency, Cohort Studie, business, Biomarkers

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fc1b417753c42119ca7278888aebcf
http://hdl.handle.net/11379/538887

المؤلفون: Francesco Saettini, Andrea Grioni, Fabio Pavan, Raffaele Badolato, Daniele Moratto, Silvia Maitz, Carmelo Rizzari, Laura Rachele Bettini, Marco Spinelli, Andrea Biondi, Maria Iascone

المساهمون: Saettini, F, Moratto, D, Grioni, A, Maitz, S, Iascone, M, Rizzari, C, Pavan, F, Spinelli, M, Bettini, L, Biondi, A, Badolato, R

المصدر: Pediatric Allergy and Immunology. 29:776-781

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Immunology, Mutation, Missense, 03 medical and health sciences, Rubinstein-Taybi syndrome, autoimmune lymphoproliferative syndrome, combined immunodeficiency, common variable immunodeficiency, syndromic immunodeficiency, 0302 clinical medicine, medicine, Immunology and Allergy, Missense mutation, EP300, Immunodeficiency, Rubinstein-Taybi Syndrome, Severe combined immunodeficiency, Rubinstein–Taybi syndrome, business.industry, Common variable immunodeficiency, medicine.disease, Virology, 030104 developmental biology, 030220 oncology & carcinogenesis, Autoimmune lymphoproliferative syndrome, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Severe Combined Immunodeficiency, business, E1A-Associated p300 Protein, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a44d4e126bd3f2463534abaaf1fbf4
https://doi.org/10.1111/pai.12968

المؤلفون: Saettini F., Herriot R., Prada E., Nizon M., Zama D., Marzollo A., Romaniouk I., Lougaris V., Cortesi M., Morreale A., Kosaki R., Cardinale F., Ricci S., Dominguez-Garrido E., Montin D., Vincent M., Milani D., Biondi A., Gervasini C., Badolato R.

المساهمون: Saettini, F, Herriot, R, Prada, E, Nizon, M, Zama, D, Marzollo, A, Romaniouk, I, Lougaris, V, Cortesi, M, Morreale, A, Kosaki, R, Cardinale, F, Ricci, S, Dominguez-Garrido, E, Montin, D, Vincent, M, Milani, D, Biondi, A, Gervasini, C, Badolato, R

مصطلحات موضوعية: antibody deficiency, B cells, CREBBP, EP300, humoral defects, lymphoproliferation, Rubinstein–Taybi syndrome, syndromic immunodeficiency

Relation: info:eu-repo/semantics/altIdentifier/pmid/32594341; info:eu-repo/semantics/altIdentifier/wos/WOS:000545123200001; volume:40; issue:6; firstpage:851; lastpage:860; numberofpages:10; journal:JOURNAL OF CLINICAL IMMUNOLOGY; http://hdl.handle.net/10281/282398; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087343083

الاتاحة: http://hdl.handle.net/10281/282398
https://doi.org/10.1007/s10875-020-00808-4

المؤلفون: Martire, Baldassarre, Azzari, Chiara, Badolato, Raffaele, Canessa, Clementina, Cirillo, Emilia, Gallo, Vera, Graziani, Simona, Lorenzini, Tiziana, Milito, Cinzia, Panza, Raffaella, Moschese, Viviana, Pignata, Claudio, Martire, B, Lassandro, G, Panza, R, Vacca, A, Marasco, C, Cardinale, F, Sisto, C, Pession, A, Ricci, G, Rondelli, R, Specchia, F, Plebani, A, Badolato, R, Lougaris, V, Soresina, A, Miniero, R, Anastasio, E, Paganelli, R, Dilizia, Sperli, D, Carpino, L, Cirillo, E, Gallo, V, Giardino, G, Spadaro, G, Pecoraro, A ), Putti, MC, Agostini, C, Cinetto, F, Trizzino, A, Bertolini, P), Arlotta, A, Marseglia, GL, Bossi, G, Consolini, R

المساهمون: Martire, Baldassarre, Azzari, Chiara, Badolato, Raffaele, Canessa, Clementina, Cirillo, Emilia, Gallo, Vera, Graziani, Simona, Lorenzini, Tiziana, Milito, Cinzia, Panza, Raffaella, Moschese, Viviana, Pignata, Claudio, Martire, B, Lassandro, G, Panza, R, Vacca, A, Marasco, C, Cardinale, F, Sisto, C, Pession, A, Ricci, G, Rondelli, R, Specchia, F, Plebani, A, Badolato, R, Lougaris, V, Soresina, A, Miniero, R, Anastasio, E, Paganelli, R, Dilizia, Sperli, D, Carpino, L, Cirillo, E, Gallo, V, Giardino, G, Spadaro, G, Pecoraro, A ), Putti, Mc, Agostini, C, Cinetto, F, Trizzino, A, Bertolini, P), Arlotta, A, Marseglia, Gl, Bossi, G, Consolini, R

مصطلحات موضوعية: Author Keywords:Vaccination, Primary immunodeficiency, Syndromic immunodeficiency, Secondary immunodeficiency KeyWords Plus:CHRONIC GRANULOMATOUS-DISEASE, ACUTE LYMPHOBLASTIC-LEUKEMIA, ADVISORY-COMMITTEE, ANTIBODY-RESPONSES, IMMUNIZATION PRACTICES, HUMORAL IMMUNITY, CALMETTE-GUERIN, POLYSACCHARIDE VACCINATION, MENDELIAN SUSCEPTIBILITY, ROTAVIRUS VACCINATION

Relation: info:eu-repo/semantics/altIdentifier/pmid/30389193; info:eu-repo/semantics/altIdentifier/wos/WOS:000454463800021; volume:36; issue:50; firstpage:7753; journal:VACCINE; http://hdl.handle.net/11568/950866; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055696604

الاتاحة: http://hdl.handle.net/11568/950866
https://doi.org/10.1016/j.vaccine.2018.10.056

المؤلفون: Clementina Canessa, Raffaella Panza, Simona Graziani, Tiziana Lorenzini, Viviana Moschese, Chiara Azzari, Raffaele Badolato, Baldassarre Martire, Cinzia Milito, Vera Gallo, Emilia Cirillo

مصطلحات موضوعية: 0301 basic medicine, Immunology and Microbiology (all), medicine.medical_treatment, Primary immunodeficiency, Secondary immunodeficiency, Syndromic immunodeficiency, Vaccination, Molecular Medicine, Veterinary (all), Public Health, Environmental and Occupational Health, Infectious Diseases, 0302 clinical medicine, Health care, 030212 general & internal medicine, Child, Process Assessment (Health Care), Vaccines, Health Policy, Process Assessment, Health Care, Immunosuppression, Bacterial Infections, Adult, Bacterial Vaccines, Humans, Immunization Schedule, Immunologic Deficiency Syndromes, Italy, Vaccines, Inactivated, Viral Vaccines, Virus Diseases, Immunocompromised Host, Practice Guidelines as Topic, Public Health, medicine.medical_specialty, 03 medical and health sciences, medicine, In patient, Intensive care medicine, Settore MED/38 - Pediatria Generale e Specialistica, General Veterinary, General Immunology and Microbiology, business.industry, Immune protection, Environmental and Occupational Health, Inactivated, medicine.disease, Heterogeneous population, 030104 developmental biology, Immunization, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe6e15c5917e0247a4e6966c9d6a1e05
http://hdl.handle.net/11379/509462

المؤلفون: Kersseboom, Rogier, Brooks, Alice, Weemaes, Corry

المساهمون: Clinical Genetics

المصدر: European Journal of Pediatrics
European Journal of Pediatrics, 170(3), 295-308. Springer-Verlag

مصطلحات موضوعية: Chromosome Aberrations, 22q11 deletion syndrome, Primary immunodeficiency, DNA repair disorders, Syndromic immunodeficiency, Genetics, Immunologic Deficiency Syndromes, Humans, Pediatrics, Perinatology, and Child Health, Review, Disease Susceptibility, Infections, DNA Repair-Deficiency Disorders

وصف الملف: image/jpeg

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0d1aa87b50136744af94c519c24166ae
http://europepmc.org/articles/PMC3068525

المؤلفون: Kersseboom, R. (Rogier), Brooks, A.S. (Alice), Weemaes, C.M.R. (Corry)

المصدر: European Journal of Pediatrics vol. 170 no. 3, pp. 295-308

مصطلحات موضوعية: 22q11 deletion syndrome, DNA repair disorders, Genetics, Primary immunodeficiency, Syndromic immunodeficiency

Relation: http://repub.eur.nl/pub/23278; urn:hdl:1765/23278

الاتاحة: http://repub.eur.nl/pub/23278
https://doi.org/10.1007/s00431-011-1396-7

المؤلفون: Saettini, Francesco, Guerra, Fabiola, Mauri, Mario, Salter, Claire G., Adam, Margaret P., Adams, David, Baple, Emma L., Barredo, Estibaliz, Bhatia, Sanil, Borkhardt, Arndt, Brusco, Alfredo, Bugarin, Cristina, Chinello, Clizia, Crosby, Andrew H., D'Souza, Precilla, Denti, Vanna, Fazio, Grazia, Giuliani, Silvia, Kuehn, Hye Sun, Amel, Hassan, Elmi, Asha, Lo, Bernice, Malighetti, Federica, Mandrile, Giorgia, Martín-Nalda, Andrea, Mefford, Heather C., Moratto, Daniele, Emam Mousavi, Fatemeh, Nelson, Zoe, Gutiérrez-Solana, Luis González, Macnamara, Ellen, Michaud, Vincent, O'Leary, Melanie, Pagani, Lisa, Pavinato, Lisa, Santamaria, Patricia VVelez, Planas-Serra, Laura, Quadri, Manuel, Raspall-Chaure, Miquel, Rebellato, Stefano, Rosenzweig, Sergio D., Roubertie, Agathe, Holzinger, Dirk, Deal, Christin, Vockley, Catherine Walsh, Savino, Angela Maria, L. Stoddard, Jennifer, Uhlig, Holm H., Pujol, Aurora, Magni, Fulvio, Paglia, Giuseppe, Cazzaniga, Gianni, Piazza, Rocco, Barberis, Matteo, Biondi, Andrea

المساهمون: Saettini, F, Guerra, F, Mauri, M, Salter, C, Adam, M, Adams, D, Baple, E, Barredo, E, Bhatia, S, Borkhardt, A, Brusco, A, Bugarin, C, Chinello, C, Crosby, A, D'Souza, P, Denti, V, Fazio, G, Giuliani, S, Kuehn, H, Amel, H, Elmi, A, Lo, B, Malighetti, F, Mandrile, G, Martín-Nalda, A, Mefford, H, Moratto, D, Emam Mousavi, F, Nelson, Z, Gutiérrez-Solana, L, Macnamara, E, Michaud, V, O'Leary, M, Pagani, L, Pavinato, L, Santamaria, P, Planas-Serra, L, Quadri, M, Raspall-Chaure, M, Rebellato, S, Rosenzweig, S, Roubertie, A, Holzinger, D, Deal, C, Vockley, C, Savino, A, L. Stoddard, J, Uhlig, H, Pujol, A, Magni, F, Paglia, G, Cazzaniga, G, Piazza, R, Barberis, M, Biondi, A

مصطلحات موضوعية: Hypogammaglobulinemia, Inborn error of immunity, PI4KA, Syndromic immunodeficiency

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/39312004; info:eu-repo/semantics/altIdentifier/wos/WOS:001320768600002; volume:45; issue:1; journal:JOURNAL OF CLINICAL IMMUNOLOGY; https://hdl.handle.net/10281/523903

الاتاحة: https://hdl.handle.net/10281/523903
https://doi.org/10.1007/s10875-024-01793-8

المؤلفون: Guerra, F, Saettini, F, Biondi, A, Guerra F., Saettini F., Biondi A.

مصطلحات الفهرس: Hypogammaglobulinemia, Inborn errors of immunity, Jacobsen syndrome, Rubinstein-Taybi syndrome, Syndromic immunodeficiency, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10281/477005
volume:42
issue:9
firstpage:569
lastpage:574
numberofpages:6
journal:MEDICO E BAMBINO

المؤلفون: Saettini, F, Fazio, G, Bonati, M, Moratto, D, Massa, V, Di Fede, E, Castiglioni, S, Marchetti, D, Chiarini, M, Sottini, A, Iascone, M, Cazzaniga, G, Imberti, L, Biondi, A, Gervasini, C, Badolato, R, Saettini F., Fazio G., Bonati M. T., Moratto D., Massa V., Di Fede E., Castiglioni S., Marchetti D., Chiarini M., Sottini A., Iascone M., Cazzaniga G., Imberti L., Biondi A., Gervasini C., Badolato R.

مصطلحات الفهرس: CREBBP, EP300, inborn errors of immunity, Rubinstein–Taybi syndrome, syndromic immunodeficiency, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/363120
info:eu-repo/semantics/altIdentifier/pmid/35266289
info:eu-repo/semantics/altIdentifier/wos/WOS:000766384600001
volume:188
issue:7
firstpage:2129
lastpage:2134
numberofpages:6
journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

المؤلفون: Saettini, F, Radaelli, S, Ocello, L, Ferrari, G, Corti, P, Dell'Acqua, F, Ippolito, D, Foresti, S, Gervasini, C, Badolato, R, Biondi, A, Saettini F., Radaelli S., Ocello L., Ferrari G. M., Corti P., Dell'Acqua F., Ippolito D., Foresti S., Gervasini C., Badolato R., Biondi A.

مصطلحات الفهرس: Combined immunodeficiency, hemophagocytic lymphohystiocytosi, HSV-1, Rubinstein Taybi syndrome, syndromic immunodeficiency, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/336793
info:eu-repo/semantics/altIdentifier/pmid/34018455
info:eu-repo/semantics/altIdentifier/wos/WOS:000652773900001
volume:39
issue:1
firstpage:74
lastpage:79
numberofpages:6
journal:PEDIATRIC HEMATOLOGY AND ONCOLOGY

المؤلفون: Saettini, F, Herriot, R, Prada, E, Nizon, M, Zama, D, Marzollo, A, Romaniouk, I, Lougaris, V, Cortesi, M, Morreale, A, Kosaki, R, Cardinale, F, Ricci, S, Dominguez-Garrido, E, Montin, D, Vincent, M, Milani, D, Biondi, A, Gervasini, C, Badolato, R, Saettini F., Herriot R., Prada E., Nizon M., Zama D., Marzollo A., Romaniouk I., Lougaris V., Cortesi M., Morreale A., Kosaki R., Cardinale F., Ricci S., Dominguez-Garrido E., Montin D., Vincent M., Milani D., Biondi A., Gervasini C., Badolato R.

مصطلحات الفهرس: antibody deficiency, B cells, CREBBP, EP300, humoral defects, lymphoproliferation, Rubinstein–Taybi syndrome, syndromic immunodeficiency, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/282398
info:eu-repo/semantics/altIdentifier/pmid/32594341
info:eu-repo/semantics/altIdentifier/wos/WOS:000545123200001
volume:40
issue:6
firstpage:851
lastpage:860
numberofpages:10
journal:JOURNAL OF CLINICAL IMMUNOLOGY

المؤلفون: Saettini, F, Moratto, D, Grioni, A, Maitz, S, Iascone, M, Rizzari, C, Pavan, F, Spinelli, M, Bettini, L, Biondi, A, Badolato, R, Saettini, Francesco, Moratto, Daniele, Grioni, Andrea, Maitz, Silvia, Iascone, Maria, Rizzari, Carmelo, Pavan, Fabio, Spinelli, Marco, Bettini, Laura Rachele, Biondi, Andrea, Badolato, Raffaele

مصطلحات الفهرس: autoimmune lymphoproliferative syndrome, combined immunodeficiency, common variable immunodeficiency, Rubinstein-Taybi syndrome, syndromic immunodeficiency, Adolescent, E1A-Associated p300 Protein, Human, Male, Mutation, Missense, Rubinstein-Taybi Syndrome, Severe Combined Immunodeficiency, Pediatrics, Perinatology and Child Health, Immunology and Allergy, Immunology, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/226133
http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399-3038
info:eu-repo/semantics/altIdentifier/pmid/30076641
info:eu-repo/semantics/altIdentifier/wos/WOS:000452539300013
volume:29
issue:7
firstpage:776
lastpage:781
numberofpages:6
journal:PEDIATRIC ALLERGY AND IMMUNOLOGY