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Most cited papers from Immune Deficiency Foundation

Immune Deficiency Foundation

What are the most cited papers from Immune Deficiency Foundation?

The most cited paper from Immune Deficiency Foundation is "Chronic Granulomatous Disease: Report on a National Registry of 368 Patients" (Jerry A. Winkelstein, Mary C. Marino, Richard B. Johnston et al., 2000), with 1,731 citations. Next come "X-Linked Agammaglobulinemia" (643) and "Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis" (533).

Showing 50 of 59 papers. Every paper with more than 26 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Chronic Granulomatous Disease: Report on a National Registry of 368 Patients Jerry A. Winkelstein, Mary C. Marino, Richard B. Johnston et al. · Medicine May 2000 1,731
2 X-Linked Agammaglobulinemia Jerry A. Winkelstein, Mary C. Marino, Howard M. Lederman et al. · Medicine Jul 2006 643
3 Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis Franco Locatelli, Michael B. Jordan, Carl E. Allen et al. · New England Journal of Medicine Open access 6 May 2020 533
4 Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH Kejian Zhang, Michael B. Jordan, Rebecca A. Marsh et al. · Blood Open access Sep 2011 430
5 Diagnostic and risk criteria for HSCT-associated thrombotic microangiopathy: a study in children and young adults Sonata Jodele, Stella M. Davies, Adam Lane et al. · Blood Open access 30 May 2014 420
6 Population Prevalence of Diagnosed Primary Immunodeficiency Diseases in the United States J. M. Boyle, Rebecca H. Buckley · Journal of Clinical Immunology Open access 18 Jun 2007 416
7 Mg 2+ Regulates Cytotoxic Functions of NK and CD8 T Cells in Chronic EBV Infection Through NKG2D Benjamin Chaigne-Delalande et al. · Science Open access 11 Jul 2013 349
8 Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation Rebecca A. Marsh, Gretchen Vaughn, Mi‐Ok Kim et al. · Blood 21 Sep 2010 277
9 Gene therapy for adenosine deaminase–deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans Fabio Candotti et al. · Blood Open access 13 Sep 2012 236
10 The genetic fingerprint of susceptibility for transplant-associated thrombotic microangiopathy Sonata Jodele, Kejian Zhang, Fanggeng Zou et al. · Blood Open access 24 Nov 2015 190
11 Aberrant type 1 immunity drives susceptibility to mucosal fungal infections Timothy J. Break et al. · Science Open access 14 Jan 2021 175
12 Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts William T. Shearer et al. · Journal of Allergy and Clinical Immunology Open access 28 Feb 2014 156
13 The 2022 EULAR/ACR points to consider at the early stages of diagnosis and management of suspected haemophagocytic lymphohistiocytosis/macrophage activation syndrome (HLH/MAS) Bita Shakoory et al. · Annals of the Rheumatic Diseases Open access 24 Jul 2023 154
14 Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH Tamar S. Rubin, Kejian Zhang, Carrie E. Gifford et al. · Blood Open access 7 Mar 2017 154
15 CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency Bernice Lo, Jill M. Fritz, Helen C. Su et al. · Blood Open access 15 Jul 2016 154
16 Primary immunodeficiencies associated with pneumococcal disease Capucine Pïcard, Anne Puel, Jacinta C. Bustamante et al. · Current Opinion in Allergy and Clinical Immunology 12 Nov 2003 154
17 Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion Waldo Spessott, Maria Laura Sanmillan, Margaret E. McCormick et al. · Blood Open access 7 Jan 2015 126
18 Circulating dsDNA, endothelial injury, and complement activation in thrombotic microangiopathy and GVHD Nicholas Joseph Gloude, Pooja Khandelwal, Nathan Luebbering et al. · Blood Open access 13 Jul 2017 122
19 Use of intravenous immunoglobulin and adjunctive therapies in the treatment of primary immunodeficiencies Pierre L Yong, John M. Boyle, Mark C. Ballow et al. · Clinical Immunology 16 Nov 2009 119
20 Autoimmunity and Inflammation in X-linked Agammaglobulinemia Vivian Pilar Hernandez-Trujillo, Chris Scalchunes, Charlotte Cunningham‐Rundles et al. · Journal of Clinical Immunology Open access 10 Jun 2014 107
21 Real-time genomic profiling of histiocytoses identifies early-kinase domain BRAF alterations while improving treatment outcomes Lynn H. Lee, Anjelika Gasilina, Jayeeta Roychoudhury et al. · JCI Insight Open access 8 Feb 2017 99
22 Early vs. delayed diagnosis of severe combined immunodeficiency: A family perspective survey Alice Y. K. Chan, Christopher Scalchunes, Marcia Boyle et al. · Clinical Immunology Open access 30 Nov 2010 94
23 Alpha-1 Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Clinical Practice Guideline DD Marciniuk, Paul Hernandez, Meyer S. Balter et al. · Canadian Respiratory Journal Open access 2012 93
24 Primary Immune Deficiency Treatment Consortium (PIDTC) report Linda M. Griffith et al. · Journal of Allergy and Clinical Immunology Open access 15 Oct 2013 86
25 Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation Akihiro Hoshino et al. · Science Immunology Open access 25 Mar 2022 81
26 A Team-Based Approach to Reducing Cardiac Monitor Alarms Christopher E. Dandoy, Stella M. Davies, Laura Flesch et al. · PEDIATRICS 11 Nov 2014 81
27 Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance Elise M. N. Ferré et al. · Science Translational Medicine Open access 5 Jun 2019 79
28 Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients Hasan Hashem et al. · Journal of Clinical Immunology Open access 29 Jul 2021 78
29 Virus-specific T-cell therapy to treat BK polyomavirus infection in bone marrow and solid organ transplant recipients. Adam S. Nelson, Daria Heyenbruch, Jeremy D. Rubinstein et al. · PubMed Open access 24 Nov 2020 78
30 Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders Vanessa Gadoury-Lévesque, Lei Dong, Rui Jun Su et al. · Blood Advances Open access 15 Jun 2020 75
31 Health-Related Quality of Life in Adult Patients with Common Variable Immunodeficiency Disorders and Impact of Treatment Nicholas L. Rider, Carleigh Kutac, Joud Hajjar et al. · Journal of Clinical Immunology Open access 23 May 2017 74
32 Comparison of American and European practices in the management of patients with primary immunodeficiencies Hillary S. Hernandez-Trujillo, Helen M Chapel, Vincent Lo Re et al. · Clinical & Experimental Immunology Open access 27 Mar 2012 70
33 Epstein-Barr virus and the nervous system Peter Portegies, Noortje P.M. Corssmit · Current Opinion in Neurology Jun 2000 64
34 Leukocyte adhesion deficiency III: a group of integrin activation defects in hematopoietic lineage cells Amos Etzioni, Ronen Alon · Current Opinion in Allergy and Clinical Immunology 5 Nov 2004 57
35 Lower levels of vitamin A are associated with increased gastrointestinal graft-versus-host disease in children Dana T. Lounder, Pooja Khandelwal, Christopher E. Dandoy et al. · Blood Open access 10 Mar 2017 56
36 Perceived Health in Patients with Primary Immune Deficiency Filiz Odabasi Seeborg, Roann Seay, Marcia Boyle et al. · Journal of Clinical Immunology Open access Oct 2015 48
37 USIDNET: A Strategy to Build a Community of Clinical Immunologists Kathleen E. Sullivan, Jennifer M. Puck, Luigi Daniele Notarangelo et al. · Journal of Clinical Immunology Open access 7 Apr 2014 45
38 Gene Editing Rescues In vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System Cameron L. Gardner, Mara Pavel-Dinu, Kerry Dobbs et al. · Journal of Clinical Immunology Open access Mar 2021 44
39 Iodine status in late pregnancy and psychosocial determinants of iodized salt use in rural northern Viet Nam Jane Fisher, Thach Duc Tran, Beverley‐Ann Biggs et al. · Bulletin of the World Health Organization Open access Nov 2011 43
40 Successful early intervention for hyperacute transplant‐associated thrombotic microangiopathy following pediatric hematopoietic stem cell transplantation Sonata Jodele, Jack Bleesing, Parinda A. Mehta et al. · Pediatric Transplantation 5 Nov 2010 43
41 X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry Dana O’Toole, Daniel Groth, Hannah Wright et al. · Journal of Clinical Immunology Open access 15 Mar 2022 41
42 Impaired immune function in children with Fanconi anaemia Kasiani C. Myers, Jack Bleesing, Stella M. Davies et al. · British Journal of Haematology Open access 4 May 2011 41
43 MEIS1 regulates an HLF–oxidative stress axis in MLL-fusion gene leukemia Jayeeta Roychoudhury, Jason P. Clark, Gabriel Gracia-Maldonado et al. · Blood Open access 5 Mar 2015 38
44 Advanced oxidation protein products and inflammatory markers in liver cirrhosis: a comparison between alcohol-related and HCV-related cirrhosis. Jolanta Zuwała−Jagiełło, Monika Pazgan−Simon, Krzysztof Adam Simon et al. · Acta Biochimica Polonica Open access 14 Mar 2011 38
45 BTK drives neutrophil activation for sterilizing antifungal immunity Jigar V. Desai et al. · Journal of Clinical Investigation Open access 2 May 2024 35
46 A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA Vivian Pilar Hernandez-Trujillo, Chuan Zhou, Christopher Scalchunes et al. · Journal of Clinical Immunology Open access 23 May 2023 35
47 Myelitis Oluf Andersen · Current Opinion in Neurology Jun 2000 35
48 Novel FOXF1-Stabilizing Compound TanFe Stimulates Lung Angiogenesis in Alveolar Capillary Dysplasia Arun Pradhan, Lixiao Che, Vladimir Ustiyan et al. · American Journal of Respiratory and Critical Care Medicine Open access 8 Dec 2022 34
49 T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency Erik Clarke, Andrew Jesse Connell, Emmanuelle M. Six et al. · Genome Medicine Open access 16 Sep 2018 34
50 Clinical Flow Cytometric Screening of SAP and XIAP Expression Accurately Identifies Patients withSH2D1AandXIAP/BIRC4Mutations Carrie E. Gifford, Elizabeth Weingartner, Joyce M Villanueva et al. · Cytometry Part B Clinical Cytometry Feb 2014 33

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.