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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 1, pp. 223 - 230
Journal Article
Gut, ISSN 0017-5749, 06/2014, Volume 63, Issue 6, pp. 1031 - 1032
  In addition to the reviewed literature, our group has recently reported on the clinical spectrum of 27 patients with XIAP deficiency. 3 Seven of these... 
GASTROENTEROLOGY & HEPATOLOGY | INFLAMMATION | Genetic Predisposition to Disease - genetics | Humans | Inflammatory Bowel Diseases - genetics | Protein expression | Mutation | Patients | Bowel disease | Index Medicus | Abridged Index Medicus
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 06/2019, Volume 143, Issue 6, pp. 2238 - 2253
Journal Article
Nature Medicine, ISSN 1078-8956, 12/2014, Volume 20, Issue 12, pp. 1410 - 1416
The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of immune responses, and its loss causes fatal autoimmunity in mice.... 
PATHWAYS | MEDICINE, RESEARCH & EXPERIMENTAL | CLINICAL-PICTURE | HOMEOSTASIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | AUTOIMMUNITY | REGULATORY T-CELLS | GERMLINE MUTATIONS | MICE | BLOCKADE | IMMUNODEFICIENCY | ABATACEPT | Recurrence | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Purpura, Thrombocytopenic, Idiopathic - genetics | Exons | Immune System Diseases - genetics | Humans | Middle Aged | Male | Anemia, Hemolytic, Autoimmune - genetics | Mutation, Missense | Respiratory Tract Infections - genetics | T-Lymphocytes, Regulatory - immunology | Autoimmune Diseases - genetics | Young Adult | Purpura, Thrombocytopenic, Idiopathic - immunology | Adult | Female | Endocytosis - genetics | Polyendocrinopathies, Autoimmune - genetics | Child | Endocytosis - immunology | Granuloma - genetics | Autoimmune Diseases - immunology | CTLA-4 Antigen - genetics | B7-1 Antigen - metabolism | Codon, Nonsense | CTLA-4 Antigen - immunology | Syndrome | Polyendocrinopathies, Autoimmune - immunology | Lung Diseases, Interstitial - immunology | Animals | B-Lymphocytes - immunology | Lung Diseases, Interstitial - genetics | Pedigree | Anemia, Hemolytic, Autoimmune - immunology | Adolescent | Respiratory Tract Infections - immunology | Granuloma - immunology | Heterozygote | Mice | Antigens | Gene mutations | Physiological aspects | Genetic aspects | Immunologic diseases | Research | Risk factors | Proteins | Homeostasis | Cytotoxicity | Ligands | T cell receptors | Mutation | Immune system | Index Medicus
Journal Article
by de la Morena, M Teresa, MD and Leonard, David, PhD and Torgerson, Troy R., MD, PhD and Cabral-Marques, Otavio, PhD and Slatter, Mary, MD and Aghamohammadi, Asghar, MD and Chandra, Sharat, MD and Murguia-Favela, Luis, MD and Bonilla, Francisco, MD, PhD and Kanariou, Maria, MD and Damrongwatanasuk, Rongras, MD and Kuo, Caroline Y., MD and Dvorak, Christopher C., MD and Meyts, Isabelle, MD and Chen, Karin, MD and Kobrynski, Lisa, MD, MPH and Kapoor, Neena, MD and Richter, Darko, MD and DiGiovanni, Daniela, MD and Dhalla, Fatima, MD and Farmaki, Evangelia, MD and Speckmann, Carsten, MD and Espanol, Teresa, MD and Shcherbina, Anna, MD and Hanson, Celine, MD and Litzman, Jiri, MD and Routes, John, MD and Wong, Melanie, MD, PhD and Fuleihan, Ramsay, MD and Seneviratne, Suranjith L., MD and Small, Trudy N., MD and Janda, Ales, MD and Bezrodnik, Liliana, MD and Seger, Reinhard, MD and Raccio, Andrea Gomez, MD and Edgar, J.David M., MD and Chou, Janet, MD and Abbott, Jordan K., MD and van Montfrans, Joris, MD and Gonzalez-Granado, Luis Ignacio, MD and Bunin, Nancy, MD and Kutukculer, Necil, MD and Gray, Paul, MD and Seminario, Gisela, MD and Pasic, Srdjan, MD and Aquino, Victor, MD and Wysocki, Christian, MD, PhD and Abolhassani, Hassan, MD and Grunebaum, Eyal, MD and Dorsey, Morna, MD and Costa Carvalho, Beatriz Tavares, MD and Condino-Neto, Antonio, MD and Cunningham-Rundles, Charlotte, MD, PhD and Knutsen, Alan P., MD and Sleasman, John, MD and Chapel, Helen, MD and Ochs, Hans D., MD and Filipovich, Alexandra, MD and Cowan, Mort, MD and Gennery, Andrew, MD and Cant, Andrew, MD and Notarangelo, Luigi D., MD and Roifman, Chaim, MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1282 - 1292
Abstract Background X-linked hyper IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared to normal individuals.... 
Allergy and Immunology | hematopoietic cell transplantation | CD40 ligand | primary immunodeficiency | defects in class-switch recombination | long-term outcomes | X-linked hyper-IgM syndrome | Karnofsky/Lansky scores | CD40 LIGAND DEFICIENCY | BONE-MARROW-TRANSPLANTATION | CHRONIC GRANULOMATOUS-DISEASE | WISKOTT-ALDRICH-SYNDROME | CLINICAL-FEATURES | IMMUNOLOGY | CHILDREN | DEFECTIVE EXPRESSION | PRIMARY IMMUNODEFICIENCY DISEASES | ALLERGY | EUROPEAN EXPERIENCE | T-CELLS | Hyper-IgM Immunodeficiency Syndrome - therapy | Follow-Up Studies | Humans | Middle Aged | Kaplan-Meier Estimate | Proportional Hazards Models | Child, Preschool | Infant | Male | Time | Hematopoietic Stem Cell Transplantation - mortality | Young Adult | Hyper-IgM Immunodeficiency Syndrome - mortality | Adolescent | Adult | Female | Retrospective Studies | Child | Cohort Studies | Transplantation | Hematopoietic stem cells | Analysis | Therapy | Disease | Liver | Central nervous system | Nervous system | Antiinfectives and antibacterials | Blood | Risk factors | Antibody response | Neurodegeneration | Bone marrow | Genetics | Diagnosis | Conditioning | Neutropenia | Binding | Wiskott-Aldrich syndrome | Immunoglobulins | Liver diseases | Mortality | Agammaglobulinemia | BCG | Cholangitis | Hazards | Regression analysis | Survival | Bile duct | Studies | Stem cells | Accident prevention | Ligands | Mutation | Protocol (computers) | Bile | Immunoglobulin M | Pneumonia | Transplants & implants | Physicians | Immunoglobulin G | Medical services | Prophylaxis | Infections | Malignancy | Defects | Respiratory tract | Allografts | Bacteria | Children | Age | Medical personnel | Bacterial infections | Complications | Blood cells | Hypersensitivity | Switching | Computer programs | Lymphocytes B | Aplasia | Collaboration | Medical prognosis | Cancer | Index Medicus | Abridged Index Medicus | Lansky scores | Karnofsky
Journal Article
Journal Article
by Coulter, Tanya I., MRCPI and Chandra, Anita, PhD, FRCPath and Bacon, Chris M., PhD, FRCPath and Babar, Judith, MRCP, FRCR and Curtis, James, PhD and Screaton, Nick, FRCP, FRCR and Goodlad, John R., MD, FRCPath and Farmer, George, MD and Steele, Cathal Laurence, MB and Leahy, Timothy Ronan, MRCPI and Doffinger, Rainer, PhD, FRCPath and Baxendale, Helen, PhD, FRCPath and Bernatoniene, Jolanta, PhD and Edgar, J. David M., FRCP, FRCPath and Longhurst, Hilary J., PhD, FRCPath and Ehl, Stephan, MD, PhD and Speckmann, Carsten, MD and Grimbacher, Bodo, MD, PhD and Sediva, Anna, MD, PhD and Milota, Tomas, MD and Faust, Saul N., PhD, FRCPCH and Williams, Anthony P., PhD, FRCPath and Hayman, Grant, FRCP, FRCPath and Kucuk, Zeynep Yesim, MD and Hague, Rosie, MRCP, FRCPH and French, Paul, MD, MRCS, DipFMS, FRCPath and Brooker, Richard, FRCPCH and Forsyth, Peter, FRCPath and Herriot, Richard, FRCP, FRCPath and Cancrini, Caterina, MD, PhD and Palma, Paolo, MD, PhD and Ariganello, Paola, MD and Conlon, Niall, PhD, FRCPath and Feighery, Conleth, PhD, FRCPath and Gavin, Patrick J., MD and Jones, Alison, PhD, FRCPCH and Imai, Kohsuke, MD, PhD and Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath and Markelj, Gašper, MD and Abinun, Mario, MD, PhD and Rieux-Laucat, Frédéric, PhD and Latour, Sylvain, PhD and Pellier, Isabelle, MD, PhD and Fischer, Alain, MD, PhD and Touzot, Fabien, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Durandy, Anne, MD, PhD and Burns, Siobhan O., MD, PhD and Savic, Sinisa, PhD, FRCPath and Kumararatne, D.S., FRCPath, DPhil (Oxon) and Moshous, Despina, MD, PhD and Kracker, Sven, PhD and Vanhaesebroeck, Bart, PhD, FMedSci and Okkenhaug, Klaus, PhD and Picard, Capucine, MD, PhD and Nejentsev, Sergey, MD, PhD and Condliffe, Alison M., PhD, FRCP and Cant, Andrew James, MD, FRCP, FRCPH
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in... 
Allergy and Immunology | Activated phosphoinositide 3-kinase δ syndrome | hematopoietic stem cell transplantation | phosphoinositide 3-kinase δ | immunodeficiency | phosphoinositide 3-kinase inhibitor | PIK3CD gene | bronchiectasis | p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency | Activated phosphoinositide 3-kinase delta syndrome | IMMUNOLOGICAL FEATURES | HYPER-IGM SYNDROME | p110 delta-activating mutation causing senescent T cells | hematopoietic stem cell | COMMON VARIABLE IMMUNODEFICIENCY | PIK3CD | IMMUNOLOGY | lymphadenopathy | REFERENCE VALUES | P110-DELTA | phosphoinositide 3-kinase delta | P110 DELTA | B-CELL | ALLERGY | transplantation | MUTATIONS | Recurrence | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Young Adult | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Adult | Female | Surveys and Questionnaires | Herpesviridae Infections - genetics | Child | Immunologic Deficiency Syndromes - therapy | Hematopoietic Stem Cell Transplantation | International Cooperation | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Animals | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Survival Analysis | Immunologic Deficiency Syndromes - genetics | Mice | Cohort Studies | Index Medicus | Abridged Index Medicus | Immune Deficiencies, Infection, and Systemic Immune Disorders | HSCT, Hematopoietic stem cell transplantation | BALF, Bronchoalveolar lavage fluid | CT, Computed tomography | APDS, Activated phosphoinositide-3 kinase δ syndrome | GOF, Gain of function | PI3K, Phosphoinositide 3-kinase | HSV, Herpes simplex virus | CMV, Cytomegalovirus | OR, Odds ratio | PPV, Pneumococcal polysaccharide vaccine | CNS, Central nervous system
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1604 - 1610
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1302 - 1310.e4
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 05/2018, Volume 215, Issue 5, pp. 1327 - 1336
Journal Article