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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1611 - 1623.e3
Background Mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial... 
Allergy and Immunology | Signal transducer and activator of transcription 1 | regulatory T cell | immune dysregulation–polyendocrinopathy–enteropathy–X-linked | chronic mucocutaneous candidiasis | forkhead box protein 3 | aneurysms | immune dysregulation-polyendocrinopathy-enteropathy-X-linked | IMMUNOLOGY | DEFICIENCY | DISEASES | ALLERGY | REGULATORY T-CELLS | IPEX | EXPRESSION | IMMUNODEFICIENCY | T-Lymphocytes, Regulatory - metabolism | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Transcriptional Activation | Interleukin-17 - immunology | Child, Preschool | Male | Intestinal Diseases - immunology | Lymphocyte Subsets - immunology | T-Lymphocytes, Regulatory - immunology | Lymphocyte Subsets - metabolism | STAT1 Transcription Factor - metabolism | Genes, Dominant | Th17 Cells - metabolism | Interleukins - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Phosphorylation - drug effects | Child | Intestinal Diseases - genetics | Immunophenotyping | DNA - metabolism | Forkhead Transcription Factors - genetics | STAT1 Transcription Factor - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Interferon-alpha - immunology | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Autoantibodies - immunology | Phenotype | Adolescent | Th17 Cells - immunology | Mutation | Cell Line, Transformed | Interferon-gamma - pharmacology | Autoimmunity | Medical colleges | Invisibility | Molecular genetics | Mycoses | Aneurysms | Genetic aspects | Children | Health aspects
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1624 - 1634.e17
Journal Article
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, 2017, Volume 141, Issue 1, pp. 365 - 371
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 6, pp. 1667 - 1675
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 3, pp. 903 - 905
  Multiple cell surface receptors converge on the induction of NF-κB activation, including CD40, the Toll-like receptors, TNF-α receptor, IL-1 receptor, and... 
Allergy and Immunology | ALLERGY | IMMUNOLOGY | Mycoses | Health aspects | Communicable diseases | Immunodeficiency | Urine | Antigens | Lymphatic system | Disease | Infections | Mutation | Patients | Defects
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 132, Issue 2, pp. 400 - 411.e9
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 5, pp. 1124 - 1127
  For statistical analysis, we used the Mann-Whitney U test (GraphPad Prism; GraphPad Software, Inc, La Jolla, Calif). Because of multiple comparisons, we used... 
Allergy and Immunology | MATRIX METALLOPROTEINASES | MUTATIONS | IMMUNOLOGY | ALLERGY | STAT3 | Job Syndrome - genetics | Humans | Metalloproteases - blood | Adolescent | Adult | Female | Job Syndrome - blood | Male | Mutation | Child | STAT3 Transcription Factor - genetics | Circuit components | Immunoglobulin E | Plasma | Disease | Aneurysms | Blood banks | Age | Cell adhesion & migration
Journal Article
Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 2015, Volume 3, Issue 3, pp. 461 - 463.e1
  CIDs that are associated with EBV and/or CMV viremia and hypogammaglobulinemia, include interleukin-2-inducible T cell kinase (ITK) deficiency, SH2D1A... 
Internal Medicine | Allergy and Immunology | Nodular lymphoid hyperplasia | Epstein-Barr virus (EBV) | Activated p110δ | Hyper-IgM syndrome | Cytomegalovirus (CMV) | ALLERGY | MUTATIONS | IMMUNOLOGY | DEFICIENCY | IMMUNODEFICIENCY | Activated p110 delta | Recurrence | Class I Phosphatidylinositol 3-Kinases - genetics | Humans | Respiratory Tract Infections - enzymology | Male | Cytomegalovirus Infections - immunology | Cytomegalovirus Infections - genetics | Respiratory Tract Infections - genetics | Lymphatic Diseases - genetics | Lymphatic Diseases - diagnosis | DNA Mutational Analysis | Immunoglobulins - blood | Lymphatic Diseases - enzymology | Epstein-Barr Virus Infections - genetics | Lymphatic Diseases - blood | Epstein-Barr Virus Infections - blood | Child | Genetic Predisposition to Disease | Epstein-Barr Virus Infections - enzymology | Epstein-Barr Virus Infections - immunology | Lymphatic Diseases - immunology | Biomarkers - blood | Cytomegalovirus Infections - diagnosis | Respiratory Tract Infections - diagnosis | Syndrome | Cytomegalovirus Infections - enzymology | Cytomegalovirus Infections - blood | Phenotype | Respiratory Tract Infections - immunology | Epstein-Barr Virus Infections - diagnosis | Mutation | Chronic Disease | Respiratory Tract Infections - blood | Cytomegalovirus | Laboratories | Ear diseases | T cell receptors | Infections | Family medical history | Kinases | Defects | Immunology | Lymphocytes | Bronchitis | Lymphomas | Age
Journal Article