Search Results - "primary immunodeficiencies"

Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene by Mohammed F. Alosaimi, Mohammed F. Alosaimi, Muddathir H. Hamad, Muneera J. AlShammari, Dima Z. Jamjoom, Najd S. Musibeeh

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A TYK2 Gene Mutation c.2395G>A Leads to TYK2 Deficiency: A Case Report and Literature Review by Peilin Wu, Suqing Chen, Bin Wu, Junhong Chen, Ge Lv

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Hyper-immunoglobulin E syndrome: Case series of 6 children from India by Rohit Kothari, Muneer Mohamed, K Vivekanandh, Sunmeet Sandhu, Preema Sinha, Anuj Bhatnagar

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A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report by Panicos Shangaris, Alison Ho, Andreas Marnerides, Simi George, Mudher AlAdnani, Shu Yau, Mattias Jansson, Jacqueline Hoyle, Joo Wook Ahn, Sian Ellard, Melita Irving, Diana Wellesley, Dharmintra Pasupathy, Muriel Holder-Espinasse

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Gaps in knowledge about the vaccine coverage of immunocompromised children: a scoping review by Shannon E. MacDonald, Airlie Palichuk, Linda Slater, Hailey Tripp, Laura Reifferscheid, Catherine Burton

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An uncommon inborn error of immunity in an adolescent with Hodgkin lymphoma and bronchiectasis by Sangeetha Ramdas, Sidharth Totadri, Priyanka Medhi, Elanthenral Sigamani, Arun Kumar Arunachalam, Leni Grace Mathew

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Bayesian Modeling Immune Reconstitution Apply to CD34+ Selected Stem Cell Transplantation for Severe Combined Immunodeficiency by Jean-Sebastien Diana, Jean-Sebastien Diana, Naïm Bouazza, Naïm Bouazza, Chloe Couzin, Martin Castelle, Alessandra Magnani, Elisa Magrin, Jeremie Rosain, Jean-Marc Treluyer, Jean-Marc Treluyer, Capucine Picard, Capucine Picard, Despina Moshous, Despina Moshous, Stéphane Blanche, Stéphane Blanche, Bénédicte Neven, Bénédicte Neven, Marina Cavazzana, Marina Cavazzana

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An Exponential Regression Model Reveals the Continuous Development of B Cell Subpopulations Used as Reference Values in Children by Christoph Königs, Stephan Schultze-Strasser, Andrea Quaiser, Konrad Bochennek, Dirk Schwabe, Thomas E. Klingebiel, Ulrike Koehl, Claudia Cappel, Udo Rolle, Peter Bader, Melanie Bremm, Sabine Huenecke, Shahrzad Bakhtiar

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Newborn Screening for Severe Combined Immunodeficiency in Israel by Erez Rechavi, Atar Lev, Talia Saraf-Levy, Amos Etzioni, Shlomo Almashanu, Raz Somech

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Beware of the persistent abscess: Chronic granulomatous disease presenting with suppurative lymphadenitis by C. Pardy, J. Pumphrey, R. Hallows, V. Scott, K. Fidler

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From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature by Nima Taghizadeh Mortezaei, Soha Mohammadi, Hassan Abolhassani, Sima Shokri, Mohammad Nabavi, Morteza Fallahpour, Mohammad Hassan Bemanian

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Predominantly antibody deficiency: case report by Louyse Jerônimo de Morais, Beatriz Brasileiro de Macedo Silva, Luís Alfredo Cezar Brito, Luíza Alcântara Pontes de Lemos, Matheus Soares Lustosa, Rafaela Ribeiro D'Azevedo Carneiro, Renata de Cerqueira Paes Correa Lima, Tainá Gomes Aragão, Veriana Márcia da Nóbrega

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Fungal infection of gingiva in a patient with hyperimmunoglobulin-E (Job's) syndrome by D Deepa, K V Arun Kumar, Chander Shekhar Joshi, Sanjeev Kumar, Anita Pandey

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Ikaros-Associated Diseases: From Mice to Humans and Back Again by Brigette Boast, Brigette Boast, Cristiane de Jesus Nunes-Santos, Hye Sun Kuehn, Sergio D. Rosenzweig

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Congenital cystic adenomatoid malformation of the lung: diagnosis in a preadolescent by Margarida S. Abreu, Ines Braga, Joana Sobreiro Silva, Jorge Correia Pinto, Augusta Gonçalves

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Bacteremia tuberculosis among HIV‐negative children in China by Ping Chu, Jin Shi, Fang Dong, Hui Yang, Shunying Zhao, Gang Liu, Huyong Zheng, Jinrong Liu, Huimin Li, Jie Lu

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Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature by Anna Khoreva, Ekaterina Pomerantseva, Natalia Belova, Inna Povolotskaya, Inna Povolotskaya, Fedor Konovalov, Vladimir Kaimonov, Alena Gavrina, Sergey Zimin, Dmitrii Pershin, Nataliia Davydova, Vasilii Burlakov, Ekaterina Viktorova, Anna Roppelt, Ekaterina Kalinina, Galina Novichkova, Anna Shcherbina

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Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines by Jose Carlo Miguel M. Villanueva, Koon-Wing Chan, Remedios C. Ong, Agnes G. Andaya, Yu-Lung Lau, Menno C. van Zelm, Hirokazu Kanegane

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Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report by Lingling Liu, Yuan Huang, Yi Liao, Sainan Shu

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Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease by Hee Young Ju, Hyoung Jin Kang, Che Ry Hong, Ji Won Lee, Hyery Kim, Sang Hoon Song, Kyung-Sang Yu, In-Jin Jang, June Dong Park, Kyung Duk Park, Hee Young Shin, Joong-Gon Kim, Hyo Seop Ahn

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