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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2009, Volume 124, Issue 6, pp. 1289 - 1302.e4
Journal Article
Journal of clinical immunology, ISSN 0271-9142, 2015, Volume 35, Issue 2, pp. 189 - 198
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 116 - 126.e11
Background Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation.... 
Allergy and Immunology | patient self-reported outcomes | treatment | Common variable immunodeficiency | primary antibody deficiency | autoimmunity | enteropathy | immunoglobulin replacement | quality of life | lymphadenopathy | granulomas | INFECTIONS | PHENOTYPES | IMMUNOLOGY | DEFICIENCY | IGM | TRIAL | B-CELL | ALLERGY | HYPOGAMMAGLOBULINEMIA | INTRAVENOUS IMMUNOGLOBULIN | DISEASE | Autoimmunity | Common Variable Immunodeficiency - immunology | Common Variable Immunodeficiency - drug therapy | Humans | Child, Preschool | Lymphoproliferative Disorders - complications | Male | Lymphoproliferative Disorders - immunology | Splenomegaly - pathology | Bronchiectasis - pathology | Common Variable Immunodeficiency - mortality | Pneumonia - mortality | Pneumonia - immunology | Adult | Female | Retrospective Studies | Child | Europe | Delayed Diagnosis | Common Variable Immunodeficiency - complications | Lymphoproliferative Disorders - mortality | Pneumonia - drug therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Age of Onset | Survival Analysis | Pneumonia - complications | Lymphoproliferative Disorders - drug therapy | Immunological deficiency syndromes | Care and treatment | Health aspects | Respiratory tract diseases | Studies | Pneumonia | Meningitis | Lymphomas | Multivariate analysis | Patients | Age | Data bases
Journal Article
by Conti, Francesca, MD, PhD and Lugo-Reyes, Saul Oswaldo, MD and Blancas Galicia, Lizbeth, MD and He, Jianxin, MD and Aksu, Güzide, MD and Borges de Oliveira, Edgar, PhD and Deswarte, Caroline, MSc and Hubeau, Marjorie, PhD and Karaca, Neslihan, MD and de Suremain, Maylis, AS and Guérin, Antoine, MSc and Baba, Laila Ait, PhD and Prando, Carolina, MD, PhD and Guerrero, Gloria G., PhD and Emiroglu, Melike, MD and Öz, Fatma Nur, MD and Yamazaki Nakashimada, Marco Antonio, MD and Gonzalez Serrano, Edith, MD and Espinosa, Sara, MD, PhD and Barlan, Isil, MD and Pérez, Nestor, MD, PhD and Regairaz, Lorena, MD and Guidos Morales, Héctor Eduardo, MD and Bezrodnik, Liliana, MD and Di Giovanni, Daniela, MD and Dbaibo, Ghassan, MD and Ailal, Fatima, MD and Galicchio, Miguel, MD and Oleastro, Matias, MD and Chemli, Jalel, MD and Danielian, Silvia, PhD and Perez, Laura, BSc and Ortega, Maria Claudia, MD and Soto Lavin, Susana, MD, PhD and Hertecant, Joseph, MD and Anal, Ozden, MD and Kechout, Nadia, MD and Al-Idrissi, Eman, MD and ElGhazali, Gehad, MD, PhD and Bondarenko, Anastasia, MD and Chernyshova, Liudmyla, MD and Ciznar, Peter, MD and Herbigneaux, Rose-Marie, MD and Diabate, Aminata, AS and Ndaga, Stéphanie, AS and Konte, Barik, AS and Czarna, Ambre, AS and Migaud, Mélanie, AS and Pedraza-Sánchez, Sigifredo, PhD and Zaidi, Mussaret Bano, MD, Msc and Vogt, Guillaume, PhD and Blanche, Stéphane, MD and Benmustapha, Imen, MD and Mansouri, Davood, MD and Abel, Laurent, MD, PhD and Boisson-Dupuis, Stéphanie, PhD and Mahlaoui, Nizar, MD, MSc, MPH and Bousfiha, Ahmed Aziz, MD and Picard, Capucine, MD, PhD and Barbouche, Ridha, MD, PhD and Al-Muhsen, Saleh, MD and Espinosa-Rosales, Francisco J., MD and Kütükçüler, Necil, MD and Condino-Neto, Antonio, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Bustamante, Jacinta, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 241 - 248.e3
Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide... 
Allergy and Immunology | primary immunodeficiency | Mycobacteria | chronic granulomatous disease | BCG | tuberculosis | SUSCEPTIBILITY | VACCINATION | 1ST REPORT | CLINICAL-FEATURES | KINDREDS | IMMUNOLOGY | DEFICIENCY | ALLERGY | INFECTION | 2 CHILDREN | MUTATIONS | Granulomatous Disease, Chronic - mortality | Mycoses - epidemiology | Mycobacterium Infections - diagnosis | Bacterial Infections - etiology | Humans | Tuberculosis - etiology | Child, Preschool | Infant | Male | Granulomatous Disease, Chronic - complications | Tuberculosis - diagnosis | Granulomatous Disease, Chronic - epidemiology | Female | Retrospective Studies | Child | Mycobacterium Infections - epidemiology | Mycobacterium Infections - etiology | Mycobacterium Infections - mortality | Granulomatous Disease, Chronic - therapy | Patient Outcome Assessment | Bacterial Infections - epidemiology | Mycoses - diagnosis | Bacterial Infections - diagnosis | Mycoses - mortality | Mycoses - etiology | BCG Vaccine - administration & dosage | Bacterial Infections - mortality | Care and treatment | Chronic granulomatous disease | Bacterial infections | Analysis | Cytochrome | Pathogens | Immunization | Tuberculosis | Infectious diseases | Laboratories | Infections | Mutation | Patients | Mycoses | Mycobacterium Infections | Life Sciences | Granulomatous Disease, Chronic | BCG Vaccine | Bacterial Infections
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 2, pp. 402 - 412
Background Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE... 
Allergy and Immunology | Primary combined immunodeficiency | autosomal recessive hyper-IgE syndrome | signal transducer and activator of transcription 3 | Molluscum contagiosum | hyper-IgE syndrome | dedicator of cytokinesis 8 | SURVIVAL | BONE-MARROW-TRANSPLANTATION | STAT3 | GLYCOSYLATION | IMMUNOLOGY | ALLERGY | DOCK8 DEFICIENCY | DISORDER | MUTATIONS | STEM-CELL TRANSPLANTATION | IMMUNODEFICIENCY | Job Syndrome - genetics | Job Syndrome - mortality | Humans | Middle Aged | Child, Preschool | Male | Support Vector Machine | Virus Diseases - complications | Eosinophils - immunology | Immunoglobulin E - blood | CD4-Positive T-Lymphocytes - immunology | Bacterial Infections - genetics | Eosinophils - pathology | Virus Diseases - genetics | Child | Guanine Nucleotide Exchange Factors - deficiency | STAT3 Transcription Factor - genetics | Skin Diseases - mortality | Immunoglobulin M - genetics | Guanine Nucleotide Exchange Factors - genetics | Virus Diseases - immunology | Skin Diseases - immunology | Antigens, Viral - immunology | Phenotype | Skin Diseases - complications | Job Syndrome - complications | Adolescent | Survival Analysis | Virus Diseases - mortality | Mutation | STAT3 Transcription Factor - immunology | CD8-Positive T-Lymphocytes - immunology | Bacterial Infections - mortality | Job Syndrome - immunology | CD8-Positive T-Lymphocytes - pathology | Skin Diseases - genetics | Antigens, Bacterial - immunology | Infant | Antigens, Bacterial - blood | CD4-Positive T-Lymphocytes - pathology | Antigens, Viral - blood | Bacterial Infections - complications | Immunoglobulin E - genetics | Bacterial Infections - immunology | Adult | Female | Immunoglobulin M - blood | Guanine Nucleotide Exchange Factors - immunology | Lymphocyte Count | Genotype & phenotype | Immunoglobulins | Laboratories | Lymphocytes | Families & family life | Lymphomas | Viral infections | Deoxyribonucleic acid--DNA | Immunoglobulin M | Immunoglobulin E | CD8-Positive T-Lymphocytes | Life Sciences | Antigens, Viral | Bacterial Infections | Job Syndrome | CD4-Positive T-Lymphocytes | Virus Diseases | Skin Diseases | Antigens, Bacterial | Guanine Nucleotide Exchange Factors | STAT3 Transcription Factor | Eosinophils
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 A., 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 Español, Teresa, MD and Shcherbina, Anna, MD and Hanson, Imelda Celine, MD and Litzman, Jiri, MD and Routes, John M., 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 González-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 Dorsey, Morna, MD and Cunningham-Rundles, Charlotte, MD, PhD and Knutsen, Alan P., MD and Sleasman, John, MD and Costa Carvalho, Beatriz Tavares, MD and Condino-Neto, Antonio, MD and Grunebaum, Eyal, MD and Chapel, Helen, MD and Ochs, Hans D., MD, PhD and Filipovich, Alexandra, MD and Cowan, Mort, MD and Gennery, Andrew, MD and Cant, Andrew, MD and Notarangelo, Luigi D., MD and Roifman, Chaim M., MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1282 - 1292
Background X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared with those seen in healthy subjects.... 
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) | 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 | Morbidity | Computer programs | Lymphocytes B | Aplasia | Collaboration | Medical prognosis | Health hazards | Cancer | Lansky scores | Karnofsky
Journal Article
Journal Article
Rheumatology international, ISSN 0172-8172, 07/2019
Familial Mediterranean fever (FMF) is the most common monogenic auto-inflammatory disease characterized by recurrent attacks of fever and serositis. Although... 
Journal Article