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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
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 5, pp. 1410 - 1419.e13
Background Recurrent bacterial and fungal infections, eczema, and increased serum IgE levels characterize patients with the hyper-IgE syndrome (HIES). Known... 
Allergy and Immunology | glycosylation | Hyper-IgE syndrome | signal transducer and activator of transcription 3 | phosphoglucomutase 3 | Staphylococcus aureus | dedicator of cytokinesis 8 | DESIGN | DOCK8 | STAT3 | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | PROBES | ALLERGY | CLONING | CONGENITAL DISORDERS | MUTASE | Job Syndrome - immunology | Cell Proliferation | Job Syndrome - genetics | T-Lymphocytes - enzymology | Humans | Genetic Diseases, Inborn - genetics | Immunoglobulin E | Infant | Male | Mutation, Missense | Job Syndrome - enzymology | Adult | Female | Child | Tunisia | Genetic Linkage | Phosphoglucomutase - metabolism | Genetic Diseases, Inborn - immunology | Glycosylation | Chromosomes, Human, Pair 6 - genetics | Homozygote | Chromosomes, Human, Pair 6 - metabolism | Genetic Diseases, Inborn - enzymology | T-Lymphocytes - immunology | Phosphoglucomutase - immunology | Immunity - genetics | Phosphoglucomutase - genetics | Amino Acid Substitution | Enzymes | Polysaccharides | Molecular genetics | Stem cells | Physiological aspects | Mycoses | Genetic aspects | Cellular signal transduction | Disease susceptibility | Genetic transcription | Proteins | Signal transduction | Cell growth | Polypeptides | Disease | Values | Mutation | Tetanus | Kinases | Chromosomes | T-Lymphocytes | Genetic Diseases, Inborn | Chromosomes, Human, Pair 6 | Immunity | Phosphoglucomutase | Life Sciences | Immunology | Job Syndrome | PGM3 | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Immunologi inom det medicinska området | Immunology in the medical area
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2009, Volume 106, Issue 33, pp. 13945 - 13950
Journal Article
Journal Article
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 11/2017, Volume 37, Issue 8, pp. 770 - 780
We report our experience in using flow cytometry-based immunological screening prospectively as a decision tool for the use of genetic studies in the... 
Medical Microbiology | Biomedicine | Immunology | Infectious Diseases | Internal Medicine | diagnosis | flow cytometry | Hemophagocytic lymphohistocytosis | degranulation | whole exome sequencing | TYPE-3 | PRIMARY IMMUNODEFICIENCIES | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | UNC13D | PATHOGENESIS | MUTATIONS | STEM-CELL TRANSPLANTATION | BINDING | Genetic Testing | Prognosis | Prospective Studies | LIM-Homeodomain Proteins - metabolism | Humans | Organ Transplantation | Intracellular Signaling Peptides and Proteins - metabolism | Asymptomatic Diseases | LIM Domain Proteins - metabolism | Flow Cytometry | Muscle Proteins - metabolism | Killer Cells, Natural - immunology | Lymphohistiocytosis, Hemophagocytic - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Lymphohistiocytosis, Hemophagocytic - immunology | Siblings | Cell Degranulation | Lymphohistiocytosis, Hemophagocytic - diagnosis | Transcription Factors - genetics | Mutation - genetics | Whole Exome Sequencing | Muscle Proteins - genetics | Transcription Factors - metabolism | LIM-Homeodomain Proteins - genetics | LIM Domain Proteins - genetics | Practice Guidelines as Topic | Genetic research | Medicine, Experimental | Medical research | Nucleotide sequencing | Analysis | DNA sequencing | Flow cytometry | Genetic analysis | Degranulation | Cytotoxicity | Transplantation | Children | Histiocytosis | Patients | Lymphocytosis | Genetic screening
Journal Article
Cell Reports, ISSN 2211-1247, 06/2013, Volume 3, Issue 6, pp. 1824 - 1831
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2014, Volume 9, Issue 6, p. e100328
Journal Article
Blood, ISSN 0006-4971, 01/2015, Volume 125, Issue 5, pp. 753 - 761
Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive... 
B-CELLS | EFFECTOR | TPPII | COMPLEX | PHENOTYPE | SUBSETS | SENESCENCE | MUTATIONS | GIANT PROTEASE | HEMATOLOGY | EXHAUSTION | Immunologic Deficiency Syndromes - pathology | Frameshift Mutation | Perforin - genetics | Humans | Aminopeptidases - immunology | Child, Preschool | Male | Anemia, Hemolytic, Autoimmune - genetics | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - deficiency | Thrombocytopenia - complications | Thrombocytopenia - genetics | Aging - immunology | Anemia, Hemolytic, Autoimmune - pathology | T-Lymphocytes - metabolism | Base Sequence | Serine Endopeptidases - genetics | Serine Endopeptidases - immunology | CD8-Positive T-Lymphocytes - metabolism | Perforin - immunology | Immunologic Deficiency Syndromes - immunology | Child | Fibroblasts - metabolism | Gene Expression | Serine Endopeptidases - deficiency | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - immunology | Thrombocytopenia - immunology | Aminopeptidases - deficiency | Fibroblasts - pathology | Thrombocytopenia - pathology | Mice, Knockout | Anemia, Hemolytic, Autoimmune - immunology | Fibroblasts - immunology | T-Lymphocytes - immunology | Consanguinity | Mice | CD8-Positive T-Lymphocytes - immunology | CD8-Positive T-Lymphocytes - pathology | Molecular Sequence Data | T-Box Domain Proteins - immunology | Female | T-Lymphocytes - pathology | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics | Siblings | Aminopeptidases - genetics | Immunologic Deficiency Syndromes - complications | Anemia, Hemolytic, Autoimmune - complications | T-Box Domain Proteins - genetics | Animals | Immunologic Deficiency Syndromes - genetics | Apoptosis | Plenary Paper | 100
Journal Article