Search Results - "primary immunodeficiency"

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  1. 261
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    Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature by Aidé Tamara Staines Boone, Ivan K. Chinn, Ivan K. Chinn, Carmen Alaez-Versón, Marco A. Yamazaki-Nakashimada, Karol Carrillo-Sánchez, María de la Luz Hortensia García-Cruz, M. Cecilia Poli, M. Cecilia Poli, M. Edith González Serrano, Edgar A. Medina Torres, David Muzquiz Zermeño, Lisa R. Forbes, Lisa R. Forbes, Francisco J. Espinosa-Rosales, Francisco J. Espinosa-Rosales, Sara E. Espinosa-Padilla, Jordan S. Orange, Jordan S. Orange, Saul Oswaldo Lugo Reyes

    Published 2019
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  2. 262
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    Different Apples, Same Tree: Visualizing Current Biological and Clinical Insights into CTLA-4 Insufficiency and LRBA and DEF6 Deficiencies by Laura Gámez-Díaz, Markus G. Seidel, Markus G. Seidel

    Published 2021
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  3. 263
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    Lymphomatoid granulomatosis: A case series from South India by Elanthenral Sigamani, Jagan Chandramohan, Sheila Nair, Geeta Chacko, Meera Thomas, Leni Grace Mathew, Susanne Pulimood, Marie Therese Manipadam

    Published 2018
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  4. 264
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    Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature by Niusha Sharifinejad, Seyed Alireza Mahdaviani, Mahnaz Jamee, Zahra Daneshmandi, Afshin Moniri, Majid Marjani, Payam Tabarsi, Parisa Farnia, Mahsa Rekabi, Mazdak Fallahi, Seyedeh Atefeh Hashemimoghaddam, Masoumeh Mohkam, Jacinta Bustamante, Jean-Laurent Casanova, Davood Mansouri, Ali Akbar Velayati

    Published 2021
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  5. 265
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    DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan by Lika'a Fasih Y. Al-Kzayer, Hanadi Munaf H. Al-Aradi, Tomonari Shigemura, Kenji Sano, Miyuki Tanaka, Motoharu Hamada, Kenan Hussien Ali, Osamah Mohammed Aldaghir, Yozo Nakazawa, Yusuke Okuno

    Published 2019
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  6. 266
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    Health-related quality of life in patients with common variable immunodeficiency switching from intravenous to subcutaneous immunoglobulin therapy by Mona Al-Ahmad, Ahmed Maher, Jasmina Nurkic

    Published 2017
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  7. 267
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    Risk Factors Associated With SARS-CoV-2 Breakthrough Infections in Fully mRNA-Vaccinated Individuals: Retrospective Analysis by Cong Liu, Junghwan Lee, Casey Ta, Ali Soroush, James R Rogers, Jae Hyun Kim, Karthik Natarajan, Jason Zucker, Yehoshua Perl, Chunhua Weng

    Published 2022
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  8. 268
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    Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome by Alejandra Aird, Macarena Lagos, Macarena Lagos, Alexander Vargas-Hernández, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Shalini Jhangiani, Emily M. Mace, Anaid Reyes, Alejandra King, Felipe Cavagnaro, Lisa R. Forbes, Ivan K. Chinn, James R. Lupski, James R. Lupski, James R. Lupski, Jordan S. Orange, Maria Cecilia Poli, Maria Cecilia Poli

    Published 2019
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  9. 269
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    An exploratory analysis of associations of genetic variation with the efficacy of tocilizumab in severe COVID-19 patients. A pharmacogenetic study based on next-generation sequenci... by Alejandro Durán-Sotuela, Jorge Vázquez-García, Sara Relaño-Fernández, Vanesa Balboa-Barreiro, Juan Fernández-Tajes, Francisco J. Blanco, Francisco J. Blanco, Ignacio Rego-Pérez

    Published 2024
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  10. 270
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    Azithromycin for Indigenous children with bronchiectasis: study protocol for a multi-centre randomized controlled trial by Valery Patricia C, Morris Peter S, Grimwood Keith, Torzillo Paul J, Byrnes Catherine A, Masters I, Bauert Paul A, McCallum Gabrielle B, Mobberly Charmaine, Chang Anne B

    Published 2012
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  11. 271
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    Comparison of [3H]-Thymidine, Carboxyfluorescein Diacetate Succinimidyl Ester and Ki-67 in Lymphocyte Proliferation by Hsin-Ju Lee, Chun-Chun Gau, Chun-Chun Gau, Chun-Chun Gau, Wan-Fang Lee, Wen-I Lee, Wen-I Lee, Jing-Long Huang, Jing-Long Huang, Jing-Long Huang, Shih-Hsiang Chen, Ho-Yu Yeh, Chi-Jou Liang, Shih-Hang Fu

    Published 2022
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  12. 272
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    Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report by Karin E. Lundin, Qing Wang, Abdulrahman Hamasy, Per Marits, Mehmet Uzunel, Valtteri Wirta, Ann-Charlotte Wikström, Anders Fasth, Olov Ekwall, C.I. Edvard Smith

    Published 2018
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  13. 273
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    RETRACTED: Alternative Treatments for Minor GI Ailments by AK Mohiuddin

    Published 2019
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  14. 274
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    Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient by Francesca Conti, Arianna Catelli, Cristina Cifaldi, Cristina Cifaldi, Lucia Leonardi, Rita Mulè, Marco Fusconi, Vittorio Stefoni, Maria Chiriaco, Beatrice Rivalta, Beatrice Rivalta, Silvia Di Cesare, Gioacchino Schifino, Gioacchino Schifino, Fabiana Sbrega, Gigliola Di Matteo, Gigliola Di Matteo, Simona Ferrari, Caterina Cancrini, Andrea Pession

    Published 2021
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  15. 275
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    Bioinformatics Integrative Analysis of Circadian Rhythms Effects on Atopic Dermatitis and Dendritic Cells by Sun N, Dai D, Deng S, Cai X, Song P

    Published 2023
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  16. 276
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    Impaired Memory B-Cell Response to Influenza Immunization in Patients With Common Variable Immunodeficiency (CVID) by Wei Zhan, Todd Hatchette, Fengyun Yue, Jun Liu, Haihan Song, Hanqi Zhao, Stephen Betschel, Mario Ostrowski

    Published 2021
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  17. 277
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    Características clínico-epidemiológicas de la neumonía por Pneumocystis jirovecii en un hospital de tercer nivel en España by Laura Martín Pedraz, Begoña Carazo Gallego, David Moreno Pérez

    Published 2021
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  18. 278
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    Doença granulomatosa crônica autossômica: relato de caso e análise genético-molecular de dois irmãos brasileiros Autosomal chronic granulomatous disease: case report and muta... by Carolina Prando-Andrade, Piedad Agudelo-Florez, Juan A. Lopez, Maria Aparecida de Souza Paiva, Beatriz T. Costa-Carvalho, Antonio Condino-Neto

    Published 2004
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  19. 279
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    Clinical-epidemiological characteristics of Pneumocystis jirovecii pneumonia in a tertiary hospital in Spain by Laura Martín Pedraz, Begoña Carazo Gallego, David Moreno Pérez

    Published 2021
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  20. 280
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    Infecciones por virus respiratorio sincitial que requieren hospitalización en pacientes con inmunodeficiencias primarias by Luis Ignacio González-Granado, Andrea Martín-Nalda, Laia Alsina, Olaf Neth, Manuel Santamaría, Pere Soler-Palacín

    Published 2022
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