Search Results - "primary immunodeficiency"

Atypical Presentations of IPEX: Expect the Unexpected by Filippo Consonni, Sara Ciullini Mannurita, Eleonora Gambineri, Eleonora Gambineri

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Case Report: Autoimmune Lymphoproliferative Syndrome vs. Chronic Active Epstein-Barr Virus Infection in Children: A Diagnostic Challenge by Aleksandra Szczawińska-Popłonyk, Elzbieta Grześk, Eyal Schwartzmann, Anna Materna-Kiryluk, Jadwiga Małdyk

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Preclinical Development of Autologous Hematopoietic Stem Cell-Based Gene Therapy for Immune Deficiencies: A Journey from Mouse Cage to Bed Side by Laura Garcia-Perez, Anita Ordas, Kirsten Canté-Barrett, Pauline Meij, Karin Pike-Overzet, Arjan Lankester, Frank J. T. Staal

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Gene therapy for rare haematological and neurometabolic paediatric diseases by Vera Gallo, Alessandro Aiuti

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Defective Toll-Like Receptors Driven B Cell Response in Hyper IgE Syndrome Patients With STAT3 Mutations by Ruolan Gong, Jing Wu, Jing Wu, Yingying Jin, Yingying Jin, Tongxin Chen, Tongxin Chen, Tongxin Chen

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TREC and KREC values in patients with congenital heart defects - neonatal screening data by L. Yu. Barycheva, L. I. Bachieva, A. A. Puchkov, J. G. Selezneva, N. A. Kozmova

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A Patient With Common Variable Immunodeficiency and Pericardial Effusion by Payam Payandeh, Maryam Khoshkhui, Farahzad Jabbari Azad, Reza Farid Hosseini

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Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation by María Soledad Caldirola, María Soledad Caldirola, Analía Gisela Seminario, Analía Gisela Seminario, Paula Carolina Luna, Renata Curciarello, Guillermo Horacio Docena, Nicolás Fernandez Escobar, Guillermo Drelichman, Marco Gattorno, Adriana A. de Jesus, Raphaela Goldbach-Mansky, María Isabel Gaillard, María Isabel Gaillard, Liliana Bezrodnik

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Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations by Magda Carneiro-Sampaio, Adriana Almeida de Jesus, Silvia Yumi Bando, Carlos Alberto Moreira-Filho

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The Needs of Adolescents and Young Adults with Chronic Illness: Results of a Quality Improvement Survey by Taryn Allen, Stephanie Reda, Staci Martin, Phoebe Long, Alexis Franklin, Sima Zadeh Bedoya, Lori Wiener, Pamela L. Wolters

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COVID-19 in children with somatic pathology by M. S. Rajkovic, S. B. Chuelov, S. K. Pylaeva, D. D. Saveleva, А. А. Chernysheva, S. A. Tosoeva, D. D. Namazova, J. N. Ivanova, A. N. Slatetskaya, A. L. Rossina, М. A. Sayfullin, E. E. Petryaykina, О. V. Shamsheva

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Hematopoietic Stem Cell Transplantation for Combined Immunodeficiencies, on Behalf of IEWP-EBMT by Benedicte Neven, Benedicte Neven, Benedicte Neven, Francesca Ferrua

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Immunodeficiency due to a novel variant in PIK3CD: a case report by Niloofar Shashaani, Zahra Chavoshzadeh, Leila Ghasemi, Shabnam Hajiani Ghotbabadi, Sara Shiari, Samin Sharafian, Reza Shiari

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Effectiveness of vaccination against SARS-CoV-2 and the need for alternative preventative approaches in immunocompromised individuals: a narrative review of systematic reviews by Thuan Tong Tan, Heng Joo Ng, Barnaby Young, Behram Ali Khan, Vikram Shetty, Nura Azmi, Steve Clissold

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Isolated leukopenia in children and adolescents referred to a Pediatric Hematology Clinic by Francesco Saettini, Sonia Bonanomi, Simona Orlandi, Andrea Biondi, Adriana Balduzzi, Tiziana Coliva

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Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA by Cristina Gutierrez-Mateo, Anne Timonen, Katja Vaahtera, Markku Jaakkola, David M Hougaard, Jonas Bybjerg-Grauholm, Marie Baekvad-Hansen, Dea Adamsen, Galina Filippov, Stephanie Dallaire, David Goldfarb, Daniel Schoener, Rongcong Wu

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CD21- CD27- Atypical B Cells in a Pediatric Cohort Study: An Extensive Single Center Flow Cytometric Analysis by Francesco Corrente, Sara Terreri, Patrizia Palomba, Claudia Capponi, Mattia Mirabella, Carlo Federico Perno, Carlo Federico Perno, Rita Carsetti, Rita Carsetti

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Patient-reported preferences for subcutaneous or intravenous administration of parenteral drug treatments in adults with immune disorders: a systematic review and meta-analysis by Vera Bril, Johannes Lampe, Nichola Cooper, Peter Kiessling, Ann Gardulf

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A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report by Lulu Yan, Yan He, Yuxin Zhang, Yingwen Liu, Limin Xu, Chunxiao Han, Yudan Zhao, Haibo Li

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Newborn Screening for Primary T- and B-Cell Immune Deficiencies-A Prospective Study in Andalucía by Beatriz de Felipe, Peter Olbrich, Walter Goycochea-Valdivia, Carmen Delgado-Pecellin, Paula Sanchez-Moreno, Berta Sánchez, José Manuel Lucena, Araceli Ferrari-Cortes, Joséfa Salguero Martin de Soto, Josefina Marquez, Carmen Salamanca, Carlos Jimenez Contreras, Olaf Neth

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