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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. AB105 - AB105
  Conclusions IPEX is a rare disorder associated with germline mutations in the FOXP3 gene affecting regulatory T cell function. 
Allergy and Immunology | Medical colleges | Patients | Mutation
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. AB172 - AB172
  [...]9 families with likely molecular diagnoses had one variant in a PIDD-associated gene, an atypical presentation for that gene defect, and other relevant... 
Allergy and Immunology | Medical colleges | Genes | Genotype & phenotype | Defects
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 137, Issue 2, pp. AB217 - AB217
  Immune evaluation demonstrated absent IgA, normal IgG and IgM, poor specific antibody responses after vaccination, mild CD4+ T cell lymphopenia with an... 
Allergy and Immunology | Viral antibodies | Mycoses | Antibodies | Health aspects | Flow cytometry | Growth hormones | Mutation | Fungal infections
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 135, Issue 2, pp. AB184 - AB184
  Genetic testing for mutations in the CDH1 gene, which are associated with hereditary diffuse gastric cancer, was negative. 
Allergy and Immunology | HIV (Viruses) | Stomach cancer | Medical research | Anemia | Biopsy
Journal Article
by Stray-Pedersen, Asbjørg, MD, PhD and Sorte, Hanne Sørmo, MS and Samarakoon, Pubudu, MS and Gambin, Tomasz, PhD and Chinn, Ivan K., MD and Coban Akdemir, Zeynep H., PhD and Erichsen, Hans Christian, MD, PhD and Forbes, Lisa R., MD and Gu, Shen, PhD and Yuan, Bo, PhD and Jhangiani, Shalini N., MS and Muzny, Donna M., MS and Rødningen, Olaug Kristin, PhD and Sheng, Ying, PhD and Nicholas, Sarah K., MD, PhD and Noroski, Lenora M., MD, MPH and Seeborg, Filiz O., MD, MPH and Davis, Carla M., MD and Canter, Debra L., MS and Mace, Emily M., PhD and Vece, Timothy J., MD and Allen, Carl E., MD, PhD and Abhyankar, Harshal A., MS and Boone, Philip M., MD, PhD and Beck, Christine R., PhD and Wiszniewski, Wojciech, MD, PhD and Fevang, Børre, MD, PhD and Aukrust, Pål, MD, PhD and Tjønnfjord, Geir E., MD, PhD and Gedde-Dahl, Tobias, MD, PhD and Hjorth-Hansen, Henrik, MD, PhD and Dybedal, Ingunn, MD, PhD and Nordøy, Ingvild, MD, PhD and Jørgensen, Silje F., MD and Abrahamsen, Tore G., MD, PhD and Øverland, Torstein, MD and Bechensteen, Anne Grete, MD, PhD and Skogen, Vegard, MD, PhD and Osnes, Liv T.N., MD, PhD and Kulseth, Mari Ann, PhD and Prescott, Trine E., MD and Rustad, Cecilie F., MD and Heimdal, Ketil R., MD, PhD and Belmont, John W., MD, PhD and Rider, Nicholas L., DO and Chinen, Javier, MD, PhD and Cao, Tram N., MS and Smith, Eric A., BSc and Caldirola, Maria Soledad, BSc and Bezrodnik, Liliana, MD and Lugo Reyes, Saul Oswaldo, MD and Espinosa Rosales, Francisco J., MD and Guerrero-Cursaru, Nina Denisse, BSc and Pedroza, Luis Alberto, PhD and Poli, Cecilia M., MD and Franco, Jose L., MD, PhD and Trujillo Vargas, Claudia M., PhD and Aldave Becerra, Juan Carlos, MD and Wright, Nicola, MD and Issekutz, Thomas B., MD and Issekutz, Andrew C., MD and Abbott, Jordan, MD and Caldwell, Jason W., DO and Bayer, Diana K., DO and Chan, Alice Y., MD, PhD and Aiuti, Alessandro, MD, PhD and Cancrini, Caterina, MD, PhD and Holmberg, Eva, MD and West, Christina, MD, PhD and Burstedt, Magnus, MD, PhD and Karaca, Ender, MD and Yesil, Gözde, MD and Artac, Hasibe, MD and Bayram, Yavuz, MD and Atik, Mehmed Musa, BSc and Eldomery, Mohammad K., MD and Ehlayel, Mohammad S., MD, PhD and Jolles, Stephen, MD, PhD and Flatø, Berit, MD, PhD and Bertuch, Alison A., MD, PhD and Hanson, I. Celine, MD and Zhang, Victor W., PhD and Wong, Lee-Jun, PhD and Hu, Jianhong, PhD and Walkiewicz, Magdalena, PhD and Yang, Yaping, PhD and Eng, Christine M., MD and Boerwinkle, Eric, PhD and Gibbs, Richard A., PhD and Shearer, William T., MD, PhD and Lyle, Robert, PhD and Orange, Jordan S., MD, PhD and Lupski, James R., MD, PhD, DSc (Hon) and Medicinska fakulteten and Institutionen för klinisk vetenskap and Pediatrik and Umeå universitet
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 232 - 245
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 5, pp. 1629 - 1640.e2
Background Gain-of-function (GOF) mutations in the human signal transducer and activator of transcription 1 (STAT1) manifest in immunodeficiency and... 
Allergy and Immunology | IFN-γ | autoimmunity | follicular T helper cell | TH1 cell | STAT1 gain of function | TH17 cell | T helper cell polarization | ruxolitinib | T | 17 cell | 1 cell | T(H)1 cell | IMMUNOLOGY | CHRONIC MUCOCUTANEOUS CANDIDIASIS | DEFICIENCY | INBORN-ERRORS | IMMUNE DYSREGULATION | IFN-gamma | ALLERGY | T(H)17 cell | DNA | DISEASE | IL-17 IMMUNITY | DIFFERENTIATION | BINDING | IMMUNODEFICIENCY | Th1 Cells - drug effects | Purpura, Thrombocytopenic, Idiopathic - genetics | Candidiasis, Chronic Mucocutaneous - genetics | Humans | Candidiasis, Chronic Mucocutaneous - immunology | Anemia, Hemolytic, Autoimmune - genetics | STAT1 Transcription Factor - genetics | Th1 Cells - immunology | STAT1 Transcription Factor - immunology | Janus Kinases - antagonists & inhibitors | Th17 Cells - drug effects | Purpura, Thrombocytopenic, Idiopathic - immunology | Anemia, Hemolytic, Autoimmune - immunology | Th17 Cells - immunology | Female | Protein Kinase Inhibitors - pharmacology | Mutation | Child | Autoimmunity - drug effects | Cytokines - immunology | Pyrazoles - pharmacology | Autoimmunity | Medical colleges | Immunodeficiency | Stem cells | Bone marrow | Genetic aspects | Transplantation | Interferon | Genetic transcription | Cell differentiation | Polarization | Phosphorylation | Candidiasis | Inhibitor drugs | Transcription | Syngeneic grafts | Differentiation (biology) | Helper cells | Bone marrow transplantation | Stem cell transplantation | Infections | Lymphocytes T | Dephosphorylation | Kinases | Immunology | Lymphocytes | Janus kinase | Remission | Drug therapy | Stat1 protein | Chronic mucocutaneous candidiasis | Functional analysis | Disease control | Patients | Hemopoiesis | Inhibitors | Kinetics | Autoimmune diseases
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 1142 - 1151.e2
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 135, Issue 2, pp. AB89 - AB89
  [...]we measured levels of antibody against various pathogens as part of the PK evaluation of RI-002, an investigational novel IGIV preparation. 
Allergy and Immunology | Cytomegalovirus | Medical research | Streptococcus infections
Journal Article
by Craddock, Nick and Hurles, Matthew E and Cardin, Niall and Pearson, Richard D and Plagnol, Vincent and Robson, Samuel and Vukcevic, Damjan and Barnes, Chris and Conrad, Donald F and Giannoulatou, Eleni and Holmes, Chris and Marchini, Jonathan L and Stirrups, Kathy and Tobin, Martin D and Wain, Louise V and Yau, Chris and Aerts, Jan and Ahmad, Tariq and Andrews, T. Daniel and Arbury, Hazel and Attwood, Anthony and Auton, Adam and Ball, Stephen G and Balmforth, Anthony J and Barrett, Jeffrey C and Barroso, Inês and Barton, Anne and Bennett, Amanda J and Bhaskar, Sanjeev and Blaszczyk, Katarzyna and Bowes, John and Brand, Oliver J and Braund, Peter S and Bredin, Francesca and Breen, Gerome and Brown, Morris J and Bruce, Ian N and Bull, Jaswinder and Burren, Oliver S and Burton, John and Byrnes, Jake and Caesar, Sian and Clee, Chris M and Coffey, Alison J and Connell, John M. C and Cooper, Jason D and Dominiczak, Anna F and Downes, Kate and Drummond, Hazel E and Dudakia, Darshna and Dunham, Andrew and Ebbs, Bernadette and Eccles, Diana and Edkins, Sarah and Edwards, Cathryn and Elliot, Anna and Emery, Paul and Evans, David M and Evans, Gareth and Eyre, Steve and Farmer, Anne and Ferrier, I. Nicol and Feuk, Lars and Fitzgerald, Tomas and Flynn, Edward and Forbes, Alistair and Forty, Liz and Franklyn, Jayne A and Freathy, Rachel M and Gibbs, Polly and Gilbert, Paul and Gokumen, Omer and Gordon-Smith, Katherine and Gray, Emma and Green, Elaine and Groves, Chris J and Grozeva, Detelina and Gwilliam, Rhian and Hall, Anita and Hammond, Naomi and Hardy, Matt and Harrison, Pile and Hassanali, Neelam and Hebaishi, Husam and Hines, Sarah and Hinks, Anne and Hitman, Graham A and Hocking, Lynne and Howard, Eleanor and Howard, Philip and Howson, Joanna M. M and Hughes, Debbie and Hunt, Sarah and Isaacs, John D and Jain, Mahim and Jewell, Derek P and Johnson, Toby and Jolley, Jennifer D and Jones, Ian R and Jones, Lisa A and ... and Wellcome Trust Case Control and Wellcome Trust Case Control Consortium and The Wellcome Trust Case Control Consortium and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för genetik och patologi and Uppsala universitet
Nature, ISSN 0028-0836, 04/2010, Volume 464, Issue 7289, pp. 713 - 720
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2016, Volume 375, Issue 4, pp. 311 - 322
Journal Article