Search Results - "primary immunodeficiencies"

Unusual presentations and associations of hyper IgE Syndrome: Retrospective analysis of ten cases at tertiary care institute - With review of indian published reports by Nayan H Patel, Jigna K Padhiyar, Yogesh B Shah, Trusha P Gajjar, Mansi D Buch

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Novel mutatıons and diverse clinical phenotypes in recombınase-activating gene 1 deficiency by Kutukculer Necil, Gulez Nesrin, Karaca Neslihan, Aksu Guzide, Berdeli Afig

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What should pediatrician know about selective IgA deficiency (update 2017) by O.L. Logvinova, M.O. Gonchar, O.P. Pomazunovska

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Elevated IgA and IL-10 levels in very-early-onset inflammatory bowel disease secondary to IL-10 receptor deficiency by Natascha Silva Sandy, Lia Furlaneto Marega, Giane Dantas Bechara, Adriana Gut Lopes Riccetto, Carmen Bonfim, Maria Marluce dos Santos Vilela, Antonio Fernando Ribeiro, Maria De Fatima Servidoni, Elizete Aparecida Lomazi

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Natural Course of Activated Phosphoinositide 3-Kinase Delta Syndrome in Childhood and Adolescence by Marketa Bloomfield, Marketa Bloomfield, Adam Klocperk, Radana Zachova, Tomas Milota, Veronika Kanderova, Anna Sediva

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Phenotypic and Genotypic Spectrum of Children with Autosomal Recessive Hyperimmunoglobulin E Syndrome Caused by DOCK8 Mutation: A Systematic Review of Case Reports by Ananyan Sampath, Hemant Yadav, Sanjuna Juluri, Girish Chandra Bhat, Yogendra Singh Yadav

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Autophagy-related molecular clusters identified as indicators for distinguishing active and latent TB infection in pediatric patients by Yang Yu, Jie Hua, Liang Chen

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Disseminated coccidioidomycosis in a patient with juvenile idiopathic arthritis receiving infliximab by Megan Trainor, Emily Henkel, Lucia Z. Diaz, Ruy Carrasco

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Neonatal screening for severe combined immunodeficiency in Brazil by Marilia Pyles Patto Kanegae, Lucila Akune Barreiros, Juliana Themudo Lessa Mazzucchelli, Sonia Marchezi Hadachi, Laura Maria de Figueiredo Ferreira Guilhoto, Ana Lúcia Acquesta, Isabel Rugue Genov, Silvia Maia Holanda, Regina Sumiko Watanabe Di Gesu, Ana Lucia Goulart, Amélia Miyashiro Nunes dos Santos, Newton Bellesi, Beatriz Tavares Costa‐Carvalho, Antonio Condino‐Neto

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Case Report: EBV Chronic Infection and Lymphoproliferation in Four APDS Patients: The Challenge of Proper Characterization, Therapy, and Follow-Up by Beatrice Rivalta, Beatrice Rivalta, Donato Amodio, Cinzia Milito, Maria Chiriaco, Silvia Di Cesare, Silvia Di Cesare, Carmela Giancotta, Francesca Conti, Veronica Santilli, Lucia Pacillo, Lucia Pacillo, Cristina Cifaldi, Maria Giovanna Desimio, Margherita Doria, Isabella Quinti, Rita De Vito, Gigliola Di Matteo, Gigliola Di Matteo, Andrea Finocchi, Andrea Finocchi, Paolo Palma, Paolo Palma, Antonino Trizzino, Alberto Tommasini, Alberto Tommasini, Caterina Cancrini, Caterina Cancrini

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Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review by T. C. Mangodt, K. Vanden Driessche, K. K. Norga, N. Moes, M. De Bruyne, F. Haerynck, V. Bordon, A. C. Jansen, A. I. Jonckheere

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MAIT cell compartment characteristics are associated with the immune response magnitude to the BNT162b2 mRNA anti-SARS-CoV-2 vaccine by Caroline Boulouis, Tobias Kammann, Angelica Cuapio, Tiphaine Parrot, Yu Gao, Elli Mouchtaridi, David Wullimann, Joshua Lange, Puran Chen, Mira Akber, Olga Rivera Ballesteros, Jagadeeswara Rao Muvva, COVAXID study group, C. I. Edvard Smith, Jan Vesterbacka, Oscar Kieri, Piotr Nowak, Peter Bergman, Marcus Buggert, Hans-Gustaf Ljunggren, Soo Aleman, Johan K. Sandberg

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Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype by Peiwei Zhao, Juan Huang, Huicong Fu, Jiali Xu, Tianhong Li, Xiankai Zhang, Qingjie Meng, Lei Zhang, Li Tan, Wen Zhang, Hebin Chen, Xiaoxia Lu, Yan Ding, Xuelian He

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Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report by Mingming Li, Wei Chen, Xiaomeng Sun, Zhipeng Wang, Xun Zou, Hua Wei, Zhan Wang, Wansheng Chen

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Case Report: Crossing a rugged road in a primary immune regulatory disorder by Mayla Sgrulletti, Mayla Sgrulletti, Cristina Cifaldi, Silvia Di Cesare, Barbara Kroegler, Elisabetta Del Duca, Valentina Ferradini, Simona Graziani, Mario Bengala, Gigliola Di Matteo, Viviana Moschese

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Immune Dysregulation in Pediatric Common Variable Immunodeficiency: Implications for the Diagnostic Approach by Aleksandra Szczawińska-Popłonyk, Katarzyna Ta̧polska-Jóźwiak, Eyal Schwartzmann, Natalia Popłonyk

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Epstein-Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis... by Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Zhen-Jiang Bai, Ying Li

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Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China by Huifeng Fan, Li Huang, Diyuan Yang, Changhao Zhang, Qiang Zeng, Genquan Yin, Gen Lu, Kunling Shen

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Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients by Irum Gul, Taj Ali Khan, Noor ul Akbar, Naila Gul, Rehman Ali, Shahid Niaz Khan

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Recurrent ocular toxoplasmosis infection in a patient with a selective deficiency of NK T-cells and cytotoxic СD8+ T-cells associated with a genetic folate cycle deficiency by D. V. Maltsev, O. O. Hurzhii

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