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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017
Abstract Background Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of the Signal Transducer and Activator of... 
Allergy and Immunology
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
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 210 - 218.e9
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 6, pp. 1641 - 1643.e3
  The underlying genetic mechanisms have been elucidated in the last few years in less than 10% to 15% of the cases and involve mutations in CD19, MS4A1... 
Allergy and Immunology | ALLERGY | COMMON VARIABLE IMMUNODEFICIENCY | NFKB2 MUTATION | IMMUNOLOGY | SEQUENCING DATA | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | DEFICIENCY | Common Variable Immunodeficiency - immunology | Alopecia - complications | Alopecia - immunology | Humans | Genetic Diseases, Inborn - genetics | Hypoglycemia - immunology | Molecular Sequence Data | Male | Hypoglycemia - pathology | Killer Cells, Natural - pathology | Genetic Diseases, Inborn - pathology | Adrenocorticotropic Hormone - genetics | Respiratory Tract Infections - genetics | Endocrine System Diseases - immunology | Alopecia - genetics | NF-kappa B p52 Subunit - genetics | Adrenocorticotropic Hormone - deficiency | Base Sequence | Genetic Diseases, Inborn - complications | Killer Cells, Natural - immunology | Adult | Respiratory Tract Infections - complications | B-Lymphocytes - pathology | Endocrine System Diseases - genetics | T-Lymphocytes - pathology | Endocrine System Diseases - pathology | Respiratory Tract Infections - pathology | Hypoglycemia - genetics | Gene Expression | NF-kappa B p52 Subunit - immunology | Common Variable Immunodeficiency - pathology | Genetic Diseases, Inborn - immunology | Common Variable Immunodeficiency - genetics | Common Variable Immunodeficiency - complications | Alopecia - pathology | B-Lymphocytes - immunology | Adrenocorticotropic Hormone - immunology | Respiratory Tract Infections - immunology | Hypoglycemia - complications | Heterozygote | T-Lymphocytes - immunology | Mutation | Cytotoxicity, Immunologic | Endocrine System Diseases - complications | Immunoglobulins | Baldness | Laboratories | Cytotoxicity | Infections | Kinases | Hypothyroidism | Patients | Defects | Genotype & phenotype | Hormone replacement therapy | Age | Immune system
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 2, pp. 420 - 428.e15
Background Five different G protein–coupled sphingosine-1-phosphate (S1P) receptors (S1P1-S1P5) regulate a variety of physiologic and pathophysiologic... 
Allergy and Immunology | primary immunodeficiencies | autoimmunity | fingolimod | FTY720 | Sphingosine-1-phosphate | circulation | migration | B cells | ACTIVATION | LYMPHOID ORGANS | WISKOTT-ALDRICH-SYNDROME | BONE-MARROW | SYNDROME PROTEIN | T-CELL | IMMUNOLOGY | DEFICIENCY | WASP | S1P | ALLERGY | DOCK8 MUTATIONS | Common Variable Immunodeficiency - immunology | Wiskott-Aldrich Syndrome Protein - genetics | Protein-Tyrosine Kinases - metabolism | Humans | Arrestins - immunology | Leukemia, Lymphocytic, Chronic, B-Cell - genetics | Antigens, CD - genetics | Time-Lapse Imaging | Antigens, CD - metabolism | Lectins, C-Type - metabolism | Guanine Nucleotide Exchange Factors - metabolism | Adaptor Proteins, Signal Transducing - immunology | Receptors, Lysosphingolipid - metabolism | Leukemia, Lymphocytic, Chronic, B-Cell - immunology | Guanine Nucleotide Exchange Factors - genetics | B-Lymphocyte Subsets - pathology | Signal Transduction | Common Variable Immunodeficiency - pathology | Antigens, Differentiation, T-Lymphocyte - metabolism | Common Variable Immunodeficiency - genetics | Leukemia, Lymphocytic, Chronic, B-Cell - pathology | B-Lymphocyte Subsets - metabolism | Wiskott-Aldrich Syndrome Protein - immunology | beta-Arrestins | Leukemia, Lymphocytic, Chronic, B-Cell - metabolism | Cell Movement | Antigens, CD - immunology | Lectins, C-Type - immunology | Arrestins - genetics | Lectins, C-Type - genetics | Arrestins - metabolism | Protein-Tyrosine Kinases - immunology | Protein-Tyrosine Kinases - genetics | Protein Isoforms - metabolism | Receptors, Lysosphingolipid - genetics | Wiskott-Aldrich Syndrome Protein - metabolism | B-Lymphocyte Subsets - immunology | Multiple Sclerosis - metabolism | Cell Line | Antigens, Differentiation, T-Lymphocyte - immunology | Gene Expression Regulation | Multiple Sclerosis - genetics | Receptors, Lysosphingolipid - immunology | Common Variable Immunodeficiency - metabolism | beta-Arrestin 2 | Adaptor Proteins, Signal Transducing - genetics | Antigens, Differentiation, T-Lymphocyte - genetics | Guanine Nucleotide Exchange Factors - immunology | Multiple Sclerosis - immunology | Multiple Sclerosis - pathology | Primary Cell Culture | Adaptor Proteins, Signal Transducing - metabolism | Protein Isoforms - immunology | Protein Isoforms - genetics | Phosphates | Multiple sclerosis | Sphingosine | Immunodeficiency | Medical genetics | Sphingolipids | G proteins | Health aspects | Lymphocyte receptors | Immunoglobulins | Mutation | Lymphocytes | Immune system | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 349 - 352.e1
  To the Editor: The nuclear factor kappa B (NF-kB) signaling pathway plays an important role in immune cell biology.1 Both the classical (nuclear factor kappa... 
Allergy and Immunology | DEFECTS | KNOCKOUT | P50 | IMMUNOLOGY | ALLERGY | PATHWAY | Lupus | Pneumonia | Immunoglobulins | Disease | Bone marrow | Population | Biology | Mutation | Patients | Tumors
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 229 - 240.e3
Background Partial DiGeorge syndrome (pDGS) is caused by deletion of the 22q11.2 region. Within this region lies CrK-like (CRKL) , a gene encoding an adapter... 
Allergy and Immunology | DiGeorge syndrome | proliferation | c-Fos | signal transducer and activator of transcription 5 | IL-2 | CRKL | T-cell receptor activation | CYCLIN D1 EXPRESSION | 22Q11 DELETION SYNDROMES | IMMUNOLOGY | SIGNALING COMPLEX | HEMATOPOIETIC-CELLS | ALLERGY | NONOBESE DIABETIC MICE | GENE-EXPRESSION | VELOCARDIOFACIAL SYNDROME | IL-2 RECEPTOR | NEURAL CREST | ADAPTER PROTEIN | Phosphorylation | Humans | Middle Aged | Child, Preschool | Infant | DiGeorge Syndrome - etiology | Case-Control Studies | Lymphocyte Subsets - immunology | Young Adult | Lymphocyte Subsets - metabolism | STAT5 Transcription Factor - metabolism | RNA Interference | T-Lymphocytes - metabolism | Adult | Nuclear Proteins - genetics | Child | Cell Line | Lymphocyte Activation | Gene Expression Regulation | Gene Silencing | Nuclear Proteins - metabolism | Immunoglobulin Isotypes - blood | Phenotype | DiGeorge Syndrome - diagnosis | DiGeorge Syndrome - metabolism | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Biomarkers | Immunoglobulin Isotypes - immunology | T-Lymphocytes - immunology | Adaptor Proteins, Signal Transducing - metabolism | Cytokines - biosynthesis | Immunological deficiency syndromes | Care and treatment | Interferon | Biological response modifiers | T cells | Fluorescein | Genetic research | Genetic transcription | Heart | Immunoglobulins | Transcription factors | Lymphocytes | Genes | Cell cycle | Infections | Mutation | Adapter proteins | Tumors | Defects
Journal Article
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 07/2019, Volume 10, p. 1757
Alessandro Moretta was Professor of Histology at University of Brescia from 1994 to 1997. It was in that period that we met and started a collaboration that... 
signaling transduction | 2B4 | INNATE | functional assays | SURFACE-MOLECULE | IMMUNOLOGY | IDENTIFICATION | LINKED LYMPHOPROLIFERATIVE-DISEASE | DEFICIENCY | natural killer cells | primary immunodeficiencies | NK CELLS | GENE | MUTATIONS | CYTOTOXICITY | monoclonal antibodies | Cutaneous T cell lymphoma | Killer cells | Care and treatment | Research | Diagnosis | Immunodeficiency
Journal Article
Journal of Immunology, ISSN 0022-1767, 01/2012, Volume 188, Issue 1, pp. 497 - 503
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 1/2019, Volume 39, Issue 1, pp. 45 - 54
Journal Article