Immunology, Mutation, Immunodeficiency, Chronic mucocutaneous candidiasis and Immune system are his primary areas of study. Autoimmunity, Immune dysregulation, Proinflammatory cytokine, Interleukin and Interleukin 17 are subfields of Immunology in which his conducts study. His study explores the link between Interleukin and topics such as Interferon gamma that cross with problems in Dock8.
He has researched Mutation in several fields, including Cancer research, STAT1, Primary immunodeficiency and Polyarteritis nodosa, Adenosine Deaminase 2 Deficiency. In his study, Missense mutation, Phenotype and Phospholipase C gamma is strongly linked to Candidate gene, which falls under the umbrella field of Immunodeficiency. His work carried out in the field of Chronic mucocutaneous candidiasis brings together such families of science as Gastroenterology, Hematology, Carcinoma and Cytopenia.
Joshua D. Milner mostly deals with Immunology, Immune system, Immunodeficiency, Disease and Genetics. The study incorporates disciplines such as Mutation and Phenotype in addition to Immunology. His Mutation research is multidisciplinary, incorporating elements of Cancer research, Chronic mucocutaneous candidiasis and Candidate gene.
His studies deal with areas such as Cytokine, Antibody and Cellular differentiation as well as Immune system. His Immunodeficiency study incorporates themes from Missense mutation, B cell, Primary immunodeficiency, Severe combined immunodeficiency and Autoimmunity. The concepts of his Immune dysregulation study are interwoven with issues in PLCG2, Cold urticaria and Exome.
Joshua D. Milner mainly investigates Immunology, Immune system, Immunodeficiency, Disease and Allergy. His Immunology study frequently involves adjacent topics like Dominant-Negative Mutation. His T-cell receptor study in the realm of Immune system interacts with subjects such as Severe acute respiratory syndrome coronavirus 2.
The various areas that Joshua D. Milner examines in his Immunodeficiency study include XIAP, Mutation Carrier and Genetic testing. Joshua D. Milner combines subjects such as Virus, Genetic variation and Human genetics with his study of Disease. His research investigates the link between Allergy and topics such as Inflammation that cross with problems in Familial Mediterranean fever and Pyoderma gangrenosum.
His main research concerns Immunology, Immune system, Pediatrics, Serology and ARDS. The study of Immunology is intertwined with the study of Disease in a number of ways. His Disease study combines topics in areas such as Virus and Human genetics.
His Immune system research incorporates themes from Atopy, Allergy and Cytokine. His Pediatrics research is multidisciplinary, relying on both Diabetes mellitus, COPD, Asthma and C-reactive protein. Joshua D. Milner interconnects Young adult and Respiratory system in the investigation of issues within Serology.
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Impaired T H 17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
Joshua D. Milner;Jason M. Brenchley;Jason M. Brenchley;Arian Laurence;Alexandra F. Freeman.
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
Qing Zhou;Dan Yang;Amanda K Ombrello;Andrey V Zavialov.
The New England Journal of Medicine (2014)
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
Joshua D. Milner;Tiphanie P. Vogel;Lisa Forbes;Chi A. Ma.
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
Qing Zhou;Hongying Wang;Daniella M. Schwartz;Monique Stoffels.
Nature Genetics (2016)
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
Michael J. Ombrello;Elaine F. Remmers;Guangping Sun;Alexandra F. Freeman.
The New England Journal of Medicine (2012)
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen.
Nucleic Acids Research (2019)
A Critical Role for STAT3 Transcription Factor Signaling in the Development and Maintenance of Human T Cell Memory
Andrea M. Siegel;Jennifer Heimall;Alexandra F. Freeman;Amy P. Hsu.
A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency
Qing Zhou;Geun-Shik Lee;Geun-Shik Lee;Jillian Brady;Shrimati Datta.
American Journal of Human Genetics (2012)
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Julie Toubiana;Satoshi Okada;Satoshi Okada;Julia Hiller;Matias Oleastro.
Multisystem Inflammatory Syndrome Related to COVID-19 in Previously Healthy Children and Adolescents in New York City.
Eva W. Cheung;Philip Zachariah;Mark Gorelik;Alexis Boneparth.
Profile was last updated on December 6th, 2021.
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