| # | Title | Journal | Year | Citations |
|---|
| 1 | A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera | Nature | 2005 | 3,221 |
| 2 | Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease | Science | 2000 | 2,451 |
| 3 | Autoantibodies against type I IFNs in patients with life-threatening COVID-19 | Science | 2020 | 1,983 |
| 4 | Normalization of Hemoglobin Level in Patients with Chronic Kidney Disease and Anemia | New England Journal of Medicine | 2006 | 1,886 |
| 5 | Preferred Reporting Items for a Systematic Review and Meta-analysis of Diagnostic Test Accuracy Studies | JAMA - Journal of the American Medical Association | 2018 | 1,783 |
| 6 | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 | Science | 2020 | 1,749 |
| 7 | Definition, evaluation, and classification of renal osteodystrophy: A position statement from Kidney Disease: Improving Global Outcomes (KDIGO) | Kidney International | 2006 | 1,586 |
| 8 | Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity | Science | 2011 | 1,482 |
| 9 | A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases | Annals of Neurology | 1983 | 1,373 |
| 10 | Discontinuation of imatinib in patients with chronic myeloid leukaemia who have maintained complete molecular remission for at least 2 years: the prospective, multicentre Stop Imatinib (STIM) trial | Lancet Oncology, The | 2010 | 1,359 |
| 11 | STARD 2015 guidelines for reporting diagnostic accuracy studies: explanation and elaboration | BMJ Open | 2016 | 1,324 |
| 12 | Terminal Complement Inhibitor Eculizumab in Atypical Hemolytic–Uremic Syndrome | New England Journal of Medicine | 2013 | 1,258 |
| 13 | Biochemical and molecular investigations in respiratory chain deficiencies | Clinica Chimica Acta | 1994 | 1,160 |
| 14 | Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages | Blood | 2016 | 1,040 |
| 15 | Development and validation of the Neuropathic Pain Symptom Inventory | Pain | 2004 | 1,031 |
| 16 | Isolation by Size of Epithelial Tumor Cells | American Journal of Pathology | 2000 | 989 |
| 17 | TLR3 Deficiency in Patients with Herpes Simplex Encephalitis | Science | 2007 | 970 |
| 18 | Percutaneous replacement of pulmonary valve in a right-ventricle to pulmonary-artery prosthetic conduit with valve dysfunction | Lancet, The | 2000 | 932 |
| 19 | CARD15 mutations in Blau syndrome | Nature Genetics | 2001 | 915 |
| 20 | Neutrophils: Molecules, Functions and Pathophysiological Aspects | Laboratory Investigation | 2000 | 911 |
| 21 | The ‘hygiene hypothesis’ for autoimmune and allergic diseases: an update | Clinical and Experimental Immunology | 2010 | 899 |
| 22 | Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee | Journal of Clinical Immunology | 2020 | 881 |
| 23 | Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family | Nature Genetics | 1997 | 859 |
| 24 | Kawasaki-like multisystem inflammatory syndrome in children during the covid-19 pandemic in Paris, France: prospective observational study | BMJ, The | 2020 | 835 |
| 25 | Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome | Nature Genetics | 2000 | 817 |
| 26 | Evaluation of candidate control genes for diagnosis and residual disease detection in leukemic patients using ‘real-time’ quantitative reverse-transcriptase polymerase chain reaction (RQ-PCR) – a Europe against cancer program | Leukemia | 2003 | 806 |
| 27 | Association between Zika virus and microcephaly in French Polynesia, 2013–15: a retrospective study | Lancet, The | 2016 | 793 |
| 28 | Efficacy of romiplostim in patients with chronic immune thrombocytopenic purpura: a double-blind randomised controlled trial | Lancet, The | 2008 | 784 |
| 29 | Regression of Splenic Lymphoma with Villous Lymphocytes after Treatment of Hepatitis C Virus Infection | New England Journal of Medicine | 2002 | 760 |
| 30 | Admission criteria for immunogerontological studies in man: The senieur protocol | Mechanisms of Ageing and Development | 1984 | 747 |
| 31 | Complement-Binding Anti-HLA Antibodies and Kidney-Allograft Survival | New England Journal of Medicine | 2013 | 746 |
| 32 | Insulin-Dependent Diabetes Mellitus as an Autoimmune Disease | Endocrine Reviews | 1994 | 737 |
| 33 | SOX10 mutations in patients with Waardenburg-Hirschsprung disease | Nature Genetics | 1998 | 733 |
| 34 | International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity | Journal of Clinical Immunology | 2018 | 732 |
| 35 | Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene | Nature Genetics | 1998 | 720 |
| 36 | Guidelines of the Pituitary Society for the diagnosis and management of prolactinomas | Clinical Endocrinology | 2006 | 720 |
| 37 | Updated International Consensus Diagnostic Criteria for Eosinophilic Esophagitis: Proceedings of the AGREE Conference | Gastroenterology | 2018 | 712 |
| 38 | Cutting Edge: Cross-Talk Between Cells of the Innate Immune System: NKT Cells Rapidly Activate NK Cells | Journal of Immunology | 1999 | 690 |
| 39 | Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency | Nature Genetics | 1995 | 684 |
| 40 | Null mutation of the prolactin receptor gene produces multiple reproductive defects in the mouse. | Genes and Development | 1997 | 679 |
| 41 | EuroFlow standardization of flow cytometer instrument settings and immunophenotyping protocols | Leukemia | 2012 | 668 |
| 42 | Effect of Tocilizumab vs Usual Care in Adults Hospitalized With COVID-19 and Moderate or Severe Pneumonia | JAMA Internal Medicine | 2021 | 654 |
| 43 | Guidelines and Good Clinical Practice Recommendations for Contrast Enhanced Ultrasound (CEUS) in the Liver – Update 2012 | Ultrasound in Medicine and Biology | 2013 | 652 |
| 44 | Sickle cell disease | Lancet, The | 2017 | 639 |
| 45 | Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues | Lancet, The | 1999 | 627 |
| 46 | Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 | Journal of Clinical Immunology | 2015 | 621 |
| 47 | Anti-CD3 antibody induces long-term remission of overt autoimmunity in nonobese diabetic mice. | Proceedings of the National Academy of Sciences of the United States of America | 1994 | 619 |
| 48 | Syngeneic transfer of autoimmune diabetes from diabetic NOD mice to healthy neonates. Requirement for both L3T4+ and Lyt-2+ T cells. | Journal of Experimental Medicine | 1987 | 584 |
| 49 | Reversible myocardial dysfunction in survivors of out-of-hospital cardiac arrest | Journal of the American College of Cardiology | 2002 | 584 |
| 50 | TGF-β-dependent mechanisms mediate restoration of self-tolerance induced by antibodies to CD3 in overt autoimmune diabetes | Nature Medicine | 2003 | 583 |
