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Journal of allergy and clinical immunology, ISSN 0091-6749, 2009, Volume 124, Issue 6, pp. 1289 - 1302.e4
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 136, Issue 3, pp. 703 - 712.e10
Background The clinical and immunologic features of CD27 deficiency remain obscure because only a few patients have been identified to date. Objective We... 
Allergy and Immunology | CD27 deficiency | hemophagocytic lymphohistiocytosis | hypogammaglobulinemia | EBV-induced lymphoproliferation | Hodgkin lymphoma | NATURAL-KILLER-CELLS | READ ALIGNMENT | EBV INFECTION | SCID MICE | COMMON VARIABLE IMMUNODEFICIENCY | Journal Article | NK CELLS | Research Support, Non-U.S. Gov't | LYMPHOPROLIFERATIVE DISORDER | CD27-CD70 INTERACTIONS | EPSTEIN-BARR-VIRUS | T-CELLS | IMMUNOLOGY | ALLERGY | Lymphohistiocytosis, Hemophagocytic - pathology | Hodgkin Disease - genetics | Hodgkin Disease - pathology | Humans | Child, Preschool | Infant | Male | Lymphoproliferative Disorders - immunology | Exome | Young Adult | Flow Cytometry | Epstein-Barr Virus Infections - genetics | Female | Lymphohistiocytosis, Hemophagocytic - genetics | Lymphohistiocytosis, Hemophagocytic - immunology | Tumor Necrosis Factor Receptor Superfamily, Member 7 - immunology | Uveitis - diagnosis | Epstein-Barr Virus Infections - immunology | Hodgkin Disease - diagnosis | Lymphohistiocytosis, Hemophagocytic - diagnosis | Immunophenotyping | Lymphoproliferative Disorders - genetics | Tumor Necrosis Factor Receptor Superfamily, Member 7 - genetics | Lymphoproliferative Disorders - pathology | Epstein-Barr Virus Infections - pathology | Homozygote | Lymphoproliferative Disorders - diagnosis | Uveitis - immunology | Adolescent | Epstein-Barr Virus Infections - diagnosis | Heterozygote | Hodgkin Disease - immunology | Tumor Necrosis Factor Receptor Superfamily, Member 7 - deficiency | Mutation | Uveitis - genetics | Uveitis - pathology | Genetic research | Medical colleges | Genetic aspects | Children | Health aspects | Immunodeficiency | Proteins | Human subjects | Antigens | Lymphocytes | Quality | Families & family life | Cytotoxicity | T cell receptors | Genomes | Kinases | Deoxyribonucleic acid--DNA
Journal Article
Nature medicine, ISSN 1546-170X, 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, 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
The Pediatric Infectious Disease Journal, ISSN 0891-3668, 02/2020, Volume 39, Issue 2, pp. e14 - e16
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2010, Volume 125, Issue 2, pp. 424 - 432.e8
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 139, Issue 4, pp. 1302 - 1310.e4
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 2009, Volume 119, Issue 5, pp. 1350 - 1358
Journal Article
Deutsches Ärzteblatt International, 4/2014, Volume 111, Issue 14, pp. 253 - 254
Journal Article