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Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2012, Volume 129, Issue 4, pp. 1175 - 1176
Journal Article
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2012, Volume 129, Issue 4, pp. 1175 - 1176
Journal Article
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2012, Volume 129, Issue 4, pp. 1175 - 1176
Journal Article
Rheumatology, ISSN 1462-0324, 05/2016, Volume 55, Issue 5, pp. 902 - 910
Objective. To determine the genotype-phenotype association in patients with adenosine deaminase-2 (ADA2) deficiency due to identical homozygous R169Q mutations... 
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 129, Issue 4, pp. 1175 - 1176
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 129, Issue 3, pp. 787 - 793.e6
Background CD27 is a lymphocyte costimulatory molecule that regulates T-cell, natural killer (NK) cell, B-cell, and plasma cell function, survival, and... 
Allergy and Immunology | phenotype | B cell | T cell | EBV | CD27 | immunodeficiency | hypogammaglobulinemia | natural killer cell | viremia | CD70 | T-CELL | IMMUNOLOGY | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | B-CELLS | MEMORY | ALLERGY | XIAP DEFICIENCY | GENERATION | DIFFERENTIATION | EXPRESSION | EPSTEIN-BARR-VIRUS | Gram-Positive Bacterial Infections - immunology | Anemia, Aplastic - virology | Humans | Male | Gram-Positive Bacterial Infections - virology | Severe Combined Immunodeficiency - physiopathology | Young Adult | Severe Combined Immunodeficiency - virology | T-Lymphocytes - metabolism | Fatal Outcome | Epstein-Barr Virus Infections - genetics | Gram-Positive Bacterial Infections - genetics | Herpesvirus 4, Human - pathogenicity | B-Lymphocytes - pathology | T-Lymphocytes - pathology | Gram-Positive Bacterial Infections - complications | Anemia, Aplastic - complications | Anemia, Aplastic - genetics | B-Lymphocytes - metabolism | Siblings | Epstein-Barr Virus Infections - physiopathology | Gram-Positive Bacterial Infections - physiopathology | Epstein-Barr Virus Infections - virology | Epstein-Barr Virus Infections - immunology | Immunity, Humoral - genetics | Cells, Cultured | Herpesvirus 4, Human - immunology | Viremia - genetics | Severe Combined Immunodeficiency - immunology | Tumor Necrosis Factor Receptor Superfamily, Member 7 - genetics | Mutation - genetics | Agammaglobulinemia - etiology | Anemia, Aplastic - physiopathology | Severe Combined Immunodeficiency - complications | Severe Combined Immunodeficiency - genetics | B-Lymphocytes - immunology | Viremia - virology | Pedigree | Epstein-Barr Virus Infections - complications | T-Lymphocytes - immunology | Viremia - immunology | Consanguinity | Anemia, Aplastic - immunology | Antigens | Genes | Staphylococcus aureus infections | T cells | Diseases | Virus diseases | Lymphocytes | Virus diseases in children | Medical genetics | Cross infection | Children | Tetanus | Nosocomial infections | Mitogens | Ligands | Infections | T cell receptors | Family medical history | Patients | Age | Viral infections | Fever | Immune system | CD27 antigen | Immunoglobulins | Cell survival | Viremia | Aplastic anemia | Immunodeficiency | Hypogammaglobulinemia | Lymphocytes T | Costimulator | Infection | Lymphocytes B | Plasma cells | Sepsis | Mutation | Natural killer cells | Differentiation | NK cell
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2013, Volume 21, Issue 10, pp. 1079 - 1084
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder with multi-systemic manifestations, caused by a heterozygous segmental deletion of 1.55-1.83Mb... 
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 2, pp. 544 - 550.e4
Background Genome-wide association studies have shown a pattern of rare copy number variations and single nucleotide polymorphisms in patients with common... 
Allergy and Immunology | IRF2BP2 | Common variable immunodeficiency | primary antibody deficiency | immunoglobulin | machine learning | GENE | ALLERGY | DISEASE | IMMUNE-DEFICIENCY | SUPPORT VECTOR MACHINE | IMMUNOLOGY | T-Lymphocyte Subsets - immunology | Common Variable Immunodeficiency - immunology | Humans | Middle Aged | Male | Common Variable Immunodeficiency - diagnosis | Exome | Young Adult | Cell Differentiation - genetics | Adult | B-Lymphocyte Subsets - immunology | Female | Nuclear Proteins - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Common Variable Immunodeficiency - genetics | Genotype | Immunophenotyping | Nuclear Proteins - metabolism | Carrier Proteins - genetics | Cell Differentiation - immunology | Immunoglobulin Isotypes - blood | Phenotype | Carrier Proteins - metabolism | B-Lymphocyte Subsets - metabolism | Pedigree | T-Lymphocyte Subsets - metabolism | Adolescent | Biomarkers | Family | Immunoglobulin Isotypes - immunology | Aged | High-Throughput Nucleotide Sequencing | Mutation | Allergy | Medical colleges | Communicable diseases | Genomics | Allergic reaction | Diseases | Algorithms | Genetic research | Immunological deficiency syndromes | Immunological deficiency syndromes in children | Children | Single nucleotide polymorphisms | Chromosomes | Genetic polymorphisms | Machine learning | Studies | Flow cytometry | Immunoglobulins | Lymphocytes | Genes | Classification | Genetic testing | Patients | Deoxyribonucleic acid--DNA
Journal Article
Haematologica, ISSN 0390-6078, 07/2015, Volume 100, Issue 7, pp. 978 - 988
Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify... 
DEFECTS | CHRONIC GRANULOMATOUS-DISEASE | MACROPHAGE ACTIVATION SYNDROME | BONE-MARROW | PERFORIN | HEMATOLOGY | CYTOTOXICITY | DEFICIENCY | TRANSPLANTATION | MANIFESTATIONS | DELETION | Lymphohistiocytosis, Hemophagocytic - pathology | Humans | Child, Preschool | Lymphoproliferative Disorders - complications | Male | Virus Diseases - complications | Virus Diseases - drug therapy | T-Lymphocytes - drug effects | Opportunistic Infections - immunology | Immunologic Deficiency Syndromes - immunology | Child | Infant, Newborn | Lymphohistiocytosis, Hemophagocytic - immunology | Opportunistic Infections - complications | Leishmaniasis - immunology | Virus Diseases - immunology | Bacterial Infections - drug therapy | Lymphohistiocytosis, Hemophagocytic - drug therapy | Europe | Lymphohistiocytosis, Hemophagocytic - diagnosis | Terminology as Topic | Leishmaniasis - drug therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Mycoses - drug therapy | T-Lymphocytes - immunology | Immunologic Deficiency Syndromes - drug therapy | Killer Cells, Natural - drug effects | Mycoses - complications | Mycoses - immunology | Infant | Killer Cells, Natural - pathology | Lymphoproliferative Disorders - immunology | Bacterial Infections - complications | Bacterial Infections - immunology | Killer Cells, Natural - immunology | Adult | Female | Registries | Steroids - therapeutic use | T-Lymphocytes - pathology | Immunologic Deficiency Syndromes - diagnosis | Diagnosis, Differential | Immunologic Deficiency Syndromes - complications | Lymphoproliferative Disorders - diagnosis | Opportunistic Infections - drug therapy | Lymphoproliferative Disorders - drug therapy | Leishmaniasis - complications | Immunologic Factors - therapeutic use
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 4, pp. 1124 - 1133.e1
Journal Article
Pediatric Allergy and Immunology, ISSN 0905-6157, 05/2011, Volume 22, Issue 3, pp. 347 - 348
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 3, pp. 799 - 806.e10
Journal Article