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by Ma, Cindy S., PhD and Wong, Natalie, BSc Hons and Rao, Geetha, MSc and Avery, Danielle T., BApplSci and Torpy, James, MPhil and Hambridge, Thomas, BSc Hons and Bustamante, Jacinta, MD, PhD and Okada, Satoshi, MD, PhD and Stoddard, Jennifer L., BS and Deenick, Elissa K., PhD and Pelham, Simon J., MSc and Payne, Kathryn, BSc Hons and Boisson-Dupuis, Stéphanie, PhD and Puel, Anne, PhD and Kobayashi, Masao, MD, PhD and Arkwright, Peter D., FRCPCH, DPhil and Kilic, Sara Sebnem, MD and El Baghdadi, Jamila, PhD and Nonoyama, Shigeaki, MD, PhD and Minegishi, Yoshiyuki, MD, PhD and Mahdaviani, Seyed Alireza, MD and Mansouri, Davood, MD and Bousfiha, Aziz, MD and Blincoe, Annaliesse K., BHB, MBChB and French, Martyn A., MB ChB, MD, FRACP, FRCPath, FRCP and Hsu, Peter, FRACP, PhD and Campbell, Dianne E., FRACP, PhD and Stormon, Michael O., MBBS, FRACP and Wong, Melanie, MBBS, PhD, FRACP, FRCPA and Adelstein, Stephen, MBBCh, PhD, FRACP, FRCPA and Smart, Joanne M., MBBS, FRACP and Fulcher, David A., MBBS, PhD, FRACP, FRCPA and Cook, Matthew C., MBBS, PhD, FRACP, FRCPA and Phan, Tri Giang, MBBS, PhD, FRACP, FRCPA and Stepensky, Polina, MD and Boztug, Kaan, MD and Kansu, Aydan, MD and İkincioğullari, Aydan, MD and Baumann, Ulrich, MD and Beier, Rita, MD and Roscioli, Tony, FRACP, PhD and Ziegler, John B., MD, FRACP and Gray, Paul, FRACP and Picard, Capucine, MD, PhD and Grimbacher, Bodo, MD and Warnatz, Klaus, MD, PhD and Holland, Steven M., MD and Casanova, Jean-Laurent, MD, PhD and Uzel, Gulbu, MD and Tangye, Stuart G., PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 4, pp. 993 - 1006.e1
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 6, pp. 1651 - 1659.e12
Background Alterations of immune homeostasis in the gut can result in development of inflammatory bowel disease (IBD). Recently, Mendelian forms of IBD have... 
Allergy and Immunology | exome sequencing | common variable immunodeficiency | early-onset inflammatory bowel disease | IL-21 | PROTEIN | IMMUNOGLOBULIN | IMMUNOLOGY | MATURATION | RENAL-CELL CARCINOMA | B-CELLS | METASTATIC MELANOMA | NK CELLS | ALLERGY | INTERLEUKIN-21 RECEPTOR | MUTATIONS | PHASE-I | Common Variable Immunodeficiency - immunology | Humans | Inflammatory Bowel Diseases - immunology | Child, Preschool | Molecular Sequence Data | Infant | Male | Inflammatory Bowel Diseases - metabolism | Interleukins - genetics | DNA Mutational Analysis | Inflammatory Bowel Diseases - genetics | B-Lymphocyte Subsets - immunology | Female | Interleukins - chemistry | Child | Immunoglobulin Class Switching | Amino Acid Sequence | Signal Transduction | Lymphocyte Activation | Models, Molecular | Receptors, Interleukin-21 - metabolism | Common Variable Immunodeficiency - genetics | Immunophenotyping | Immunoglobulin Isotypes - blood | Sequence Alignment | Common Variable Immunodeficiency - metabolism | B-Lymphocyte Subsets - metabolism | Pedigree | Age of Onset | Interleukins - deficiency | Immunoglobulin Isotypes - immunology | Protein Conformation | Consanguinity | Mutation | Medical colleges | Development and progression | Immunological deficiency syndromes | Gastrointestinal diseases | Inflammatory bowel disease | Proteins | Cell growth | Cloning | Homeostasis | Patients | Methods | Life Sciences | Cancer
Journal Article
Clinical Infectious Diseases, ISSN 1058-4838, 1/2014, Volume 58, Issue 2, pp. 204 - 213
Owing to impaired interleukin 17 immunity, interleukin 12βR1 (IL-12βR1)–deficient patients have mucocutaneous candidiasis, which is usually recurrent or... 
Mycobacterium | Salmonella | Interleukin-12 receptor β1 chain | Candida | Primary immunodeficiency | Recurrence | Humans | Middle Aged | Interleukin-12 Receptor beta 1 Subunit - deficiency | Child, Preschool | Infant | Male | Patient Outcome Assessment | Adolescent | Adult | Female | Candidiasis - immunology | Candidiasis - pathology | Child | primary immunodeficiency | and Commentaries
Journal Article
Nature Communications, ISSN 2041-1723, 01/2014, Volume 5, Issue 1, p. 5360
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 11/2017, Volume 37, Issue 8, pp. 790 - 800
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 5/2016, Volume 36, Issue 4, pp. 370 - 373
Journal Article
International Archives of Allergy and Immunology, ISSN 1018-2438, 10/2009, Volume 150, Issue 3, pp. 261 - 270
Background: The oral aspirin (ASA) provocation test is considered to be the gold standard in the diagnosis of ASA sensitivity. However, since it may be... 
Original Paper | CD63 | Nasal polyp | CD203c | Aspirin sensitivity | Flow cytometric cellular allergen stimulation test | Cellular antigen stimulation tests | Basophil activation | Allergenicity | Asthma | MAST-CELLS | ALLERGY DIAGNOSIS | IMMUNOLOGY | IN-VITRO DIAGNOSIS | ASPIRIN | ALLERGY | DEGRANULATION | FLOW-CYTOMETRY | EXPRESSION | BASOPHIL ACTIVATION TEST | HYPERSENSITIVITY | Antigens, CD - immunology | Humans | Middle Aged | Pyrophosphatases - genetics | Male | Antigens, CD - genetics | Antigens, CD - metabolism | Aspirin - administration & dosage | Basophil Degranulation Test | Flow Cytometry | Basophils - pathology | Aspirin - adverse effects | Platelet Membrane Glycoproteins - metabolism | Sensitivity and Specificity | Basophils - immunology | Drug Hypersensitivity - diagnosis | Adult | Female | Biomarkers - metabolism | Drug Hypersensitivity - etiology | Platelet Membrane Glycoproteins - immunology | Phosphoric Diester Hydrolases - metabolism | Pyrophosphatases - immunology | Administration, Oral | Cell Separation | Diclofenac - adverse effects | Platelet Membrane Glycoproteins - genetics | Phosphoric Diester Hydrolases - genetics | Phosphoric Diester Hydrolases - immunology | Pyrophosphatases - metabolism | Tetraspanin 30 | Diclofenac - administration & dosage | Basophils - metabolism | Aspirin | Diagnostic tests | Allergies | Index Medicus
Journal Article
Journal Article
by Marciano, Beatriz E., MD and Huang, Chiung-Yu, PhD and Joshi, Gyan, PhD and Rezaei, Nima, MD and Carvalho, Beatriz Costa, MD and Allwood, Zoe, MD and Ikinciogullari, Aydan, MD and Reda, Shereen M., MD and Gennery, Andrew, MD and Thon, Vojtech, MD and Espinosa-Rosales, Francisco, MD and Al-Herz, Waleed, MD and Porras, Oscar, MD and Shcherbina, Anna, MD and Szaflarska, Anna, MD and Kiliç, Şebnem, MD and Franco, Jose L., MD, PhD and Gómez Raccio, Andrea C., MD and Roxo, Persio, MD and Esteves, Isabel, MD and Galal, Nermeen, MD and Grumach, Anete Sevciovic, MD, PhD and Al-Tamemi, Salem, MD and Yildiran, Alisan, MD and Orellana, Julio C., MD and Yamada, Masafumi, MD and Morio, Tomohiro, MD and Liberatore, Diana, MD and Ohtsuka, Yoshitoshi, MD and Lau, Yu-Lung, MD and Nishikomori, Ryuta, MD and Torres-Lozano, Carlos, MD and Mazzucchelli, Juliana T.L., MD and Vilela, Maria M.S., MD and Tavares, Fabiola S., MD and Cunha, Luciana, MD and Pinto, Jorge A., MD and Espinosa-Padilla, Sara E., MD and Hernandez-Nieto, Leticia, MD and Elfeky, Reem A., MD and Ariga, Tadashi, MD and Toshio, Heike, MD and Dogu, Figen, MD and Cipe, Funda, MD and Formankova, Renata, MD and Nuñez-Nuñez, M. Enriqueta, MD and Bezrodnik, Liliana, MD and Marques, Jose Gonçalo, MD and Pereira, María I., PhD and Listello, Viviana, MD and Slatter, Mary A., MD and Nademi, Zohreh, MD and Kowalczyk, Danuta, MD and Fleisher, Thomas A., MD and Davies, Graham, MD and Neven, Bénédicte, MD and Rosenzweig, Sergio D., MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 4, pp. 1134 - 1141
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2015, Volume 372, Issue 25, pp. 2409 - 2422
Journal Article