946
Views
37
CrossRef citations to date
0
Altmetric
Research Article

Severe Combined Immunodeficiences: New and Old Scenarios

, , , , , , , & show all
Pages 43-65 | Accepted 23 Nov 2011, Published online: 17 Jan 2012

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (2)

Vera Gallo, Giuliana Giardino, Donatella Capalbo, Loredana Palamaro, Rosa Romano, Francesca Santamaria, Filomena Maio, Mariacarolina Salerno, Pietro Vajro & Claudio Pignata. (2013) Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model. Expert Review of Clinical Immunology 9:1, pages 43-51.
Read now
Donatella Capalbo, Giuliana Giardino, Lucia De Martino, Loredana Palamaro, Rosa Romano, Vera Gallo, Emilia Cirillo, Mariacarolina Salerno & Claudio Pignata. (2012) Genetic Basis of Altered Central Tolerance and Autoimmune Diseases: A Lesson from AIRE Mutations. International Reviews of Immunology 31:5, pages 344-362.
Read now

Articles from other publishers (35)

Giuliana Giardino, Roberta Romano, Vassilios Lougaris, Riccardo Castagnoli, Francesca Cillo, Lucia Leonardi, Francesco La Torre, Annarosa Soresina, Silvia Federici, Caterina Cancrini, Lucia Pacillo, Elisabetta Toriello, Bianca Laura Cinicola, Stefania Corrente, Stefano Volpi, Gian Luigi Marseglia, Claudio Pignata & Fabio Cardinale. (2023) Immune tolerance breakdown in inborn errors of immunity: Paving the way to novel therapeutic approaches. Clinical Immunology 251, pages 109302.
Crossref
Aarif Ali, Bashir Ahmad Malla, Zainab Manzoor, Showkeen Muzamil Bashir, Mashooq Ahmad Dar, Showkat Ahmad Ganie & Manzoor Ur Rahman Mir. 2022. Clinical Applications of Immunogenetics. Clinical Applications of Immunogenetics 89 130 .
Giuliana Giardino, Emilia Cirillo, Rosaria Prencipe, Roberta Romano, Francesca Cillo, Elisabetta Toriello, Veronica De Rosa & Claudio Pignata. 2022. Translational Autoimmunity. Translational Autoimmunity 73 95 .
Roberta Romano, Melissa Borrelli, Emilia Cirillo, Giuliana Giardino, Giuseppe Spadaro, Ludovica Crescenzi, Ilaria Mormile, Laura Venditto, Claudio Pignata & Francesca Santamaria. (2021) Respiratory Manifestations in Primary Immunodeficiencies: Findings From a Pediatric and Adult Cohort. Archivos de Bronconeumología 57:11, pages 712-714.
Crossref
Roberta Romano, Melissa Borrelli, Emilia Cirillo, Giuliana Giardino, Giuseppe Spadaro, Ludovica Crescenzi, Ilaria Mormile, Laura Venditto, Claudio Pignata & Francesca Santamaria. (2021) Respiratory Manifestations in Primary Immunodeficiencies: Findings From a Pediatric and Adult Cohort. Archivos de Bronconeumología (English Edition) 57:11, pages 712-714.
Crossref
Lara Pizzamiglio, Elisa Focchi & Flavia Antonucci. (2020) ATM Protein Kinase: Old and New Implications in Neuronal Pathways and Brain Circuitry. Cells 9:9, pages 1969.
Crossref
Larisa Koleva, Elizaveta Bovt, Fazoil Ataullakhanov & Elena Sinauridze. (2020) Erythrocytes as Carriers: From Drug Delivery to Biosensors. Pharmaceutics 12:3, pages 276.
Crossref
Ibrahim Farag Rehan, Motamed Elsayed Mahmoud, Doaa Salman, Asmaa Elnagar, Saleh Salman, Mohammed Youssef, Amer Ragheb Abdel Aziz, Eman Kamal Bazh & Abd El-Latif Hesham. (2020) Sialylated N-glycan profile during acute and chronic infections with Toxoplasma gondii in mice. Scientific Reports 10:1.
Crossref
Marian Vincenzi, Flavia Anna Mercurio & Marilisa Leone. (2020) Sam Domains in Multiple Diseases. Current Medicinal Chemistry 27:3, pages 450-476.
Crossref
Sibel BALCI, Rabia Miray KIŞLA EKİNCİ, Dilek DOĞRUEL, Mahir SERBES, Derya Ufuk ALTINTAŞ & Mustafa YILMAZ. (2019) Does selective IgA deficiency have a good prognostic role on juvenile dermatomyositis? a case report.IgA eksikliğinin juvenil dermatomiyozit prognozuna olumlu etkisi var mıdır? olgu sunumu.. Cukurova Medical Journal 44:4, pages 1511-1514.
Crossref
Alberto Rissone, Erin Jimenez, Kevin Bishop, Blake Carrington, Claire Slevin, Stephen M. Wincovitch, Raman Sood, Fabio Candotti & Shawn M. Burgess. (2019) A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress. Disease Models & Mechanisms.
Crossref
Fiorentino Grasso, Emilia Cirillo, Giuseppe Quaremba, Vincenzo Graziano, Vera Gallo, Letizia Cruoglio, Carmine Botta, Claudio Pignata & Sergio Motta. (2018) Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey. American Journal of Medical Genetics Part A 176:10, pages 2128-2134.
Crossref
Faramarz Naeim, P. Nagesh Rao, Sophie X. Song & Ryan T. Phan. 2018. Atlas of Hematopathology. Atlas of Hematopathology 803 812 .
Muneyoshi Futami, Kota Sato, Kanji Miyazaki, Kenshi Suzuki, Takafumi Nakamura & Arinobu Tojo. (2017) Efficacy and Safety of Doubly-Regulated Vaccinia Virus in a Mouse Xenograft Model of Multiple Myeloma. Molecular Therapy - Oncolytics 6, pages 57-68.
Crossref
A. Garraffo, B. Pilmis, J. Toubiana, A. Puel, N. Mahlaoui, S. Blanche, O. Lortholary & F. Lanternier. (2017) Invasive Fungal Infection in Primary Immunodeficiencies Other Than Chronic Granulomatous Disease. Current Fungal Infection Reports 11:1, pages 25-34.
Crossref
Lijun Wang, C. Alexander Valencia, Rebecca A. Marsh & Kejian Zhang. 2017. Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders. Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders 89 112 .
Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D’Assante, Alberto Prandini, Rita Consolini, Emily G. Farrow, Isabelle Thiffault, Carol J. Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato & Claudio Pignata. (2016) Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing. Frontiers in Immunology 7.
Crossref
Giuliana Giardino, Vera Gallo, Rosaria Prencipe, Giovanni Gaudino, Roberta Romano, Marco De Cataldis, Paola Lorello, Loredana Palamaro, Chiara Di Giacomo, Donatella Capalbo, Emilia Cirillo, Roberta D’Assante & Claudio Pignata. (2016) Unbalanced Immune System: Immunodeficiencies and Autoimmunity. Frontiers in Pediatrics 4.
Crossref
Lara Pizzamiglio, Elisa Focchi, Luca Murru, Matteo Tamborini, Maria Passafaro, Elisabetta Menna, Michela Matteoli & Flavia Antonucci. (2016) New Role of ATM in Controlling GABAergic Tone During Development. Cerebral Cortex 26:10, pages 3879-3888.
Crossref
Yun-Jung Choi, Kiho Lee, Woo-Jin Park, Deug-Nam Kwon, Chankyu Park, Jeong Tae Do, Hyuk Song, Seong-Keun Cho, Kwang-Wook Park, Alana N. Brown, Melissa S. Samuel, Clifton N. Murphy, Randall S. Prather & Jin-Hoi Kim. (2016) Partial loss of interleukin 2 receptor gamma function in pigs provides mechanistic insights for the study of human immunodeficiency syndrome. Oncotarget 7:32, pages 50914-50926.
Crossref
Emilia Cirillo, Giuliana Giardino, Vera Gallo, Roberta D'Assante, Fiorentino Grasso, Roberta Romano, Cristina Di Lillo, Giovanni Galasso & Claudio Pignata. (2015) Severe combined immunodeficiency-an update. Annals of the New York Academy of Sciences 1356:1, pages 90-106.
Crossref
Francisco A. Bonilla, David A. Khan, Zuhair K. Ballas, Javier Chinen, Michael M. Frank, Joyce T. Hsu, Michael Keller, Lisa J. Kobrynski, Hirsh D. Komarow, Bruce Mazer, Robert P. NelsonJr.Jr., Jordan S. Orange, John M. Routes, William T. Shearer, Ricardo U. Sorensen, James W. Verbsky, David I. Bernstein, Joann Blessing-Moore, David Lang, Richard A. Nicklas, John Oppenheimer, Jay M. Portnoy, Christopher R. Randolph, Diane Schuller, Sheldon L. Spector, Stephen Tilles, Dana Wallace, Francisco A. Bonilla, David A. Khan, David I. Bernstein, Joann Blessing-Moore, David Khan, David Lang, Richard A. Nicklas, John Oppenheimer, Jay M. Portnoy, Christopher R. Randolph, Diane Schuller, Sheldon L. Spector, Stephen Tilles, Dana Wallace, Francisco A. Bonilla, Zuhair K. Ballas, Javier Chinen, Michael M. Frank, Joyce T. Hsu, Michael Keller, Lisa J. Kobrynski, Hirsh D. Komarow, Bruce Mazer, Robert P. NelsonJr.Jr., Jordan S. Orange, John M. Routes, William T. Shearer, Ricardo U. Sorensen & James W. Verbsky. (2015) Practice parameter for the diagnosis and management of primary immunodeficiency. Journal of Allergy and Clinical Immunology 136:5, pages 1186-1205.e78.
Crossref
Alberto Rissone, Katja Gabriele Weinacht, Giancarlo la Marca, Kevin Bishop, Elisa Giocaliere, Jayashree Jagadeesh, Kerstin Felgentreff, Kerry Dobbs, Waleed Al-Herz, Marypat Jones, Settara Chandrasekharappa, Martha Kirby, Stephen Wincovitch, Karen Lyn Simon, Yuval Itan, Alex DeVine, Thorsten Schlaeger, Axel Schambach, Raman Sood, Luigi D. Notarangelo & Fabio Candotti. (2015) Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress. Journal of Experimental Medicine 212:8, pages 1185-1202.
Crossref
Nerea Domínguez-Pinilla, Luis Allende-Martínez, María Dolores Corral Sánchez, Jaime de Inocencio Arocena & Luis Ignacio González-Granado. (2015) Presentation of Severe Combined Immunodeficiency with Respiratory Syncytial Virus and Pneumocystis Co-infection. Pediatric Infectious Disease Journal 34:4, pages 433-434.
Crossref
Christopher JA Duncan & Sophie Hambleton. (2014) Host genetic factors in susceptibility to mycobacterial disease. Clinical Medicine 14:Suppl 6, pages s17-s21.
Crossref
Stephanie Albin & Charlotte Cunningham-Rundles. (2014) An update on the use of immunoglobulin for the treatment of immunodeficiency disorders. Immunotherapy 6:10, pages 1113-1126.
Crossref
Kais Hussein, Berenice Rath, Britta Ludewig, Hans Kreipe & Danny Jonigk. (2014) Clinico-pathological characteristics of different types of immunodeficiency-associated smooth muscle tumours. European Journal of Cancer 50:14, pages 2417-2424.
Crossref
Nivedita Dhingra, Satya Prakash Yadav, Jean-Pierre de Villartay, Capucine Picard, RK Sabharwal, Veronique Dinand, Samarjit Singh Ghuman & Anupam Sachdeva. (2014) Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy. Hematology/Oncology and Stem Cell Therapy 7:1, pages 44-49.
Crossref
. 2014. Primer to the Immune Response. Primer to the Immune Response 377 421 .
G. Giardino, A. Fusco, R. Romano, V. Gallo, F. Maio, T. Esposito, L. Palamaro, G. Parenti, M. C. Salerno, P. Vajro & C. Pignata. (2012) Betamethasone therapy in a taxia t elangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis . European Journal of Neurology 20:5, pages 740-747.
Crossref
Claudia Nobrega, Cláudio Nunes-Alves, Bruno Cerqueira-Rodrigues, Susana Roque, Palmira Barreira-Silva, Samuel M. Behar & Margarida Correia-Neves. (2013) T Cells Home to the Thymus and Control Infection. The Journal of Immunology 190:4, pages 1646-1658.
Crossref
Faramarz Naeim, P. Nagesh Rao, Sophie X. Song & Wayne W. Grody. 2013. Atlas of Hematopathology. Atlas of Hematopathology 613 620 .
Nicola Improda, Maria Alessio, Donatella Capalbo, Giustina Russo, Ida D’Acunzo, Loredana Palamaro, Claudio Pignata & Mariacarolina Salerno. (2012) Acute adrenal failure as the presenting feature of primary antiphospholipid syndrome in a child. Italian Journal of Pediatrics 38:1.
Crossref
Loredana Palamaro, Giuliana Giardino, Francesca Santamaria, Rosa Romano, Anna Fusco, Silvia Montella, Mariacarolina Salerno, Matilde Valeria Ursini & Claudio Pignata. (2012) Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels. Italian Journal of Pediatrics 38:1.
Crossref
Silvia Montella, Marco Maglione, Giuliana Giardino, Angela Di Giorgio, Loredana Palamaro, Virginia Mirra, Matilde Valeria Ursini, Mariacarolina Salerno, Claudio Pignata, Carlo Caffarelli & Francesca Santamaria. (2012) Hyper IgM syndrome presenting as chronic suppurative lung disease. Italian Journal of Pediatrics 38:1.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.