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The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
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
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, 2010, Volume 125, Issue 2, pp. 424 - 432.e8
Background The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of...
Allergy and Immunology | STAT3 mutations | Hyper-IgE syndrome | diagnostic guidelines | T H17 cells | HIES | Job syndrome | CELLS | ALLERGY | HOST-DEFENSE | IMMUNOLOGY | T(H)17 cells | Job Syndrome - immunology | Job Syndrome - genetics | Enzyme-Linked Immunosorbent Assay | Job Syndrome - diagnosis | Cell Separation | Humans | Middle Aged | Interleukin-17 - immunology | Child, Preschool | Infant | Male | Immunoglobulin E - blood | Young Adult | Flow Cytometry | T-Lymphocytes, Helper-Inducer - immunology | Adolescent | Polymerase Chain Reaction | Adult | Female | Mutation | Child | STAT3 Transcription Factor - genetics | Practice Guidelines as Topic | Allergy | Medical colleges | Asthma in children | Immunodeficiency | Immunoglobulin E | Bone marrow | Transplantation | Diagnosis | Children | Gene therapy | Health aspects | Allergic reaction | Signal transduction | Cell culture | Genotype & phenotype | Pneumonia | Hypotheses | Fractures | Cytokines | Patients | Age | Deoxyribonucleic acid--DNA
Allergy and Immunology | STAT3 mutations | Hyper-IgE syndrome | diagnostic guidelines | T H17 cells | HIES | Job syndrome | CELLS | ALLERGY | HOST-DEFENSE | IMMUNOLOGY | T(H)17 cells | Job Syndrome - immunology | Job Syndrome - genetics | Enzyme-Linked Immunosorbent Assay | Job Syndrome - diagnosis | Cell Separation | Humans | Middle Aged | Interleukin-17 - immunology | Child, Preschool | Infant | Male | Immunoglobulin E - blood | Young Adult | Flow Cytometry | T-Lymphocytes, Helper-Inducer - immunology | Adolescent | Polymerase Chain Reaction | Adult | Female | Mutation | Child | STAT3 Transcription Factor - genetics | Practice Guidelines as Topic | Allergy | Medical colleges | Asthma in children | Immunodeficiency | Immunoglobulin E | Bone marrow | Transplantation | Diagnosis | Children | Gene therapy | Health aspects | Allergic reaction | Signal transduction | Cell culture | Genotype & phenotype | Pneumonia | Hypotheses | Fractures | Cytokines | Patients | Age | Deoxyribonucleic acid--DNA
Journal Article
Mayo Clinic Proceedings, ISSN 0025-6196, 2015, Volume 90, Issue 8, pp. 996 - 1000
Internal Medicine | MEDICINE, GENERAL & INTERNAL | Drug Costs | United States - epidemiology | Neoplasms - economics | Humans | Patient Participation | Patient Advocacy | Antineoplastic Agents - economics | Neoplasms - epidemiology | Prescription Fees | Neoplasms - drug therapy | Antimitotic agents | Cancer patients | Patient outcomes | Economic aspects | Dosage and administration | Drug therapy | Antineoplastic agents
Journal Article
Mayo Clinic Proceedings, ISSN 0025-6196, 2009, Volume 84, Issue 2, pp. 114 - 122
OBJECTIVE To conduct in vitro studies as well as a phase 2 clinical trial in patients with smoldering or indolent multiple myeloma to determine if interleukin...
Internal Medicine | C-REACTIVE PROTEIN | PROGNOSTIC FACTORS | APOPTOSIS | MEDICINE, GENERAL & INTERNAL | UNDETERMINED SIGNIFICANCE | LABELING INDEXES | DISORDERS | MONOCLONAL GAMMOPATHY | EXPRESSION | PLASMA-CELLS | PROGRESSION
Internal Medicine | C-REACTIVE PROTEIN | PROGNOSTIC FACTORS | APOPTOSIS | MEDICINE, GENERAL & INTERNAL | UNDETERMINED SIGNIFICANCE | LABELING INDEXES | DISORDERS | MONOCLONAL GAMMOPATHY | EXPRESSION | PLASMA-CELLS | PROGRESSION
Journal Article
Mayo Clinic Proceedings, ISSN 0025-6196, 2014, Volume 89, Issue 7, pp. 926 - 933
Abstract MV-NIS is an engineered measles virus that is selectively destructive to myeloma plasma cells and can be monitored by noninvasive radioiodine imaging...
Internal Medicine | MULTIPLE-MYELOMA | ANTIBODIES | CELLS | IMMUNITY | MEDICINE, GENERAL & INTERNAL | CYCLOPHOSPHAMIDE | POXVIRUS | MEASLES-VIRUS | INDUCTION | CARRIERS | DELIVERY | Multiple Myeloma - diagnostic imaging | Oncolytic Virotherapy - methods | Multiple Myeloma - therapy | Humans | Middle Aged | Radionuclide Imaging | Female | Aged | Infusions, Intravenous | Oncolytic Viruses | Measles virus | Melanoma | Genetic aspects | Dosage and administration | Research | Gene expression | Drug therapy | Health aspects | Isotopes | Oncogenic viruses | Iodine
Internal Medicine | MULTIPLE-MYELOMA | ANTIBODIES | CELLS | IMMUNITY | MEDICINE, GENERAL & INTERNAL | CYCLOPHOSPHAMIDE | POXVIRUS | MEASLES-VIRUS | INDUCTION | CARRIERS | DELIVERY | Multiple Myeloma - diagnostic imaging | Oncolytic Virotherapy - methods | Multiple Myeloma - therapy | Humans | Middle Aged | Radionuclide Imaging | Female | Aged | Infusions, Intravenous | Oncolytic Viruses | Measles virus | Melanoma | Genetic aspects | Dosage and administration | Research | Gene expression | Drug therapy | Health aspects | Isotopes | Oncogenic viruses | Iodine
Journal Article
BMC Complementary and Alternative Medicine, ISSN 1472-6882, 06/2017, Volume 17, Issue Suppl 1, pp. 1 - 65
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2008, Volume 51, Issue 16, pp. 1553 - 1561
Vascular Effects of Diet Supplementation With Plant Sterols Oliver Weingärtner, Dieter Lütjohann, Shengbo Ji, Nicole Weisshoff, Franka List, Thomas Sudhop,...
Cardiovascular | Internal Medicine | PHYTOSTEROLS | CARDIAC & CARDIOVASCULAR SYSTEMS | PLASMA | HYPERCHOLESTEROLEMIC SUBJECTS | ATHEROSCLEROSIS | SERUM | DEFICIENT MICE | CORONARY HEART-DISEASE | ASSOCIATION | NONCHOLESTEROL STEROLS | INTESTINAL CHOLESTEROL ABSORPTION | Humans | Mice, Inbred C57BL | Risk Factors | Arteriosclerosis - physiopathology | Male | Brain Ischemia - physiopathology | Brain Ischemia - prevention & control | Cardiovascular System - drug effects | Endothelium - physiopathology | Phytosterols - pharmacology | Arteriosclerosis - prevention & control | Phytosterols - administration & dosage | Animals | Phytosterols - blood | Plant Preparations | Female | Aged | Mice | Dietary Supplements | Brain | Esters | Analysis | Injuries | Phytosterols | Endothelium | Plasma | Sterols | Ischemia | Diet | Rodents | Atherosclerosis | Brain damage | Cardiovascular disease | Smooth muscle | Cholesterol | Functional foods & nutraceuticals
Cardiovascular | Internal Medicine | PHYTOSTEROLS | CARDIAC & CARDIOVASCULAR SYSTEMS | PLASMA | HYPERCHOLESTEROLEMIC SUBJECTS | ATHEROSCLEROSIS | SERUM | DEFICIENT MICE | CORONARY HEART-DISEASE | ASSOCIATION | NONCHOLESTEROL STEROLS | INTESTINAL CHOLESTEROL ABSORPTION | Humans | Mice, Inbred C57BL | Risk Factors | Arteriosclerosis - physiopathology | Male | Brain Ischemia - physiopathology | Brain Ischemia - prevention & control | Cardiovascular System - drug effects | Endothelium - physiopathology | Phytosterols - pharmacology | Arteriosclerosis - prevention & control | Phytosterols - administration & dosage | Animals | Phytosterols - blood | Plant Preparations | Female | Aged | Mice | Dietary Supplements | Brain | Esters | Analysis | Injuries | Phytosterols | Endothelium | Plasma | Sterols | Ischemia | Diet | Rodents | Atherosclerosis | Brain damage | Cardiovascular disease | Smooth muscle | Cholesterol | Functional foods & nutraceuticals
Journal Article
BMC Complementary and Alternative Medicine, ISSN 1472-6882, 06/2017, Volume 17, Issue S1
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2011, Volume 10, Issue 5, pp. 424 - 435
Summary Background Imaging with amyloid-β PET can potentially aid the early and accurate diagnosis of Alzheimer's disease. Florbetaben (18 F) is a promising18...
Neurology | INDIVIDUALS | BIOMARKERS | F-18-BAY94-9172 | DEMENTIA | DEPOSITION | PIB | MILD COGNITIVE IMPAIRMENT | PITTSBURGH COMPOUND-B | BRAIN | CLINICAL NEUROLOGY | APOLIPOPROTEIN-E | Diagnosis, Differential | Humans | Middle Aged | Male | Positron-Emission Tomography - methods | Apolipoproteins E - metabolism | Alzheimer Disease - diagnosis | Apolipoproteins E - genetics | Alzheimer Disease - metabolism | Amyloid beta-Peptides | Positron-Emission Tomography - standards | Female | Aged | Alzheimer Disease - diagnostic imaging | Fluorine Radioisotopes
Neurology | INDIVIDUALS | BIOMARKERS | F-18-BAY94-9172 | DEMENTIA | DEPOSITION | PIB | MILD COGNITIVE IMPAIRMENT | PITTSBURGH COMPOUND-B | BRAIN | CLINICAL NEUROLOGY | APOLIPOPROTEIN-E | Diagnosis, Differential | Humans | Middle Aged | Male | Positron-Emission Tomography - methods | Apolipoproteins E - metabolism | Alzheimer Disease - diagnosis | Apolipoproteins E - genetics | Alzheimer Disease - metabolism | Amyloid beta-Peptides | Positron-Emission Tomography - standards | Female | Aged | Alzheimer Disease - diagnostic imaging | Fluorine Radioisotopes
Journal Article
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Decreasing Body Temperature Predicts Early Rehospitalization in Congestive Heart Failure
Journal of Cardiac Failure, ISSN 1071-9164, 2008, Volume 14, Issue 6, pp. 489 - 496
Abstract Background In congestive heart failure (CHF), a low body temperature at hospital admission predicts in-hospital mortality. We hypothesized that a...
Cardiovascular | mortality | rehospitalization | prognostic indicators | Hypothermia | CARDIAC & CARDIOVASCULAR SYSTEMS | COLD PRESSOR TEST | NOREPINEPHRINE | PROGNOSIS | EXERCISE PERFORMANCE | SEASONAL-VARIATION | ANGIOTENSIN-II | hypothermia | STRESS | EXPRESSION | Heart Failure - complications | Predictive Value of Tests | Survival Rate - trends | Follow-Up Studies | Humans | Middle Aged | Heart Failure - physiopathology | Patient Readmission - trends | Body Temperature - physiology | Hospital Mortality - trends | Hypothermia - complications | Aged, 80 and over | Hypothermia - mortality | Aged | Retrospective Studies | Hypothermia - physiopathology | Heart Failure - mortality | Congestive heart failure
Cardiovascular | mortality | rehospitalization | prognostic indicators | Hypothermia | CARDIAC & CARDIOVASCULAR SYSTEMS | COLD PRESSOR TEST | NOREPINEPHRINE | PROGNOSIS | EXERCISE PERFORMANCE | SEASONAL-VARIATION | ANGIOTENSIN-II | hypothermia | STRESS | EXPRESSION | Heart Failure - complications | Predictive Value of Tests | Survival Rate - trends | Follow-Up Studies | Humans | Middle Aged | Heart Failure - physiopathology | Patient Readmission - trends | Body Temperature - physiology | Hospital Mortality - trends | Hypothermia - complications | Aged, 80 and over | Hypothermia - mortality | Aged | Retrospective Studies | Hypothermia - physiopathology | Heart Failure - mortality | Congestive heart failure
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 986 - 1001
Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both...
B-LYMPHOCYTES | AUTOPHAGY GENE | PROTEIN | GRAY PLATELET SYNDROME | DISEASE | GENETICS & HEREDITY | X-LINKED AGAMMAGLOBULINEMIA | COMMON VARIABLE IMMUNODEFICIENCY | ENDOPLASMIC-RETICULUM | SELECTIVE IGA DEFICIENCY | LARGE COHORT | B-Lymphocytes - cytology | Cell Proliferation | Agammaglobulinemia - genetics | Microscopy, Electron, Transmission - methods | Humans | Autoimmunity - genetics | Child, Preschool | Genotype | Immunophenotyping | Male | Chromosome Mapping | Autophagy | Homozygote | Phenotype | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Immunologic Deficiency Syndromes - genetics | Female | Models, Genetic | Mutation | Child | Apoptosis | Genetic Linkage | Autoimmunity | Gene mutations | Genetic susceptibility | Agammaglobulinemia | Causes of | Genetic aspects | Research | Immunoglobulins | Analysis | Immunodeficiency | Genetic research | Mitogens | Heredity | Hypogammaglobulinemia | Lipopolysaccharides | chromosome 4 | Cell activation | Lymphocytes B | Development | Autoimmune diseases | Genotypes | Phagocytosis | Linkage analysis
B-LYMPHOCYTES | AUTOPHAGY GENE | PROTEIN | GRAY PLATELET SYNDROME | DISEASE | GENETICS & HEREDITY | X-LINKED AGAMMAGLOBULINEMIA | COMMON VARIABLE IMMUNODEFICIENCY | ENDOPLASMIC-RETICULUM | SELECTIVE IGA DEFICIENCY | LARGE COHORT | B-Lymphocytes - cytology | Cell Proliferation | Agammaglobulinemia - genetics | Microscopy, Electron, Transmission - methods | Humans | Autoimmunity - genetics | Child, Preschool | Genotype | Immunophenotyping | Male | Chromosome Mapping | Autophagy | Homozygote | Phenotype | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Immunologic Deficiency Syndromes - genetics | Female | Models, Genetic | Mutation | Child | Apoptosis | Genetic Linkage | Autoimmunity | Gene mutations | Genetic susceptibility | Agammaglobulinemia | Causes of | Genetic aspects | Research | Immunoglobulins | Analysis | Immunodeficiency | Genetic research | Mitogens | Heredity | Hypogammaglobulinemia | Lipopolysaccharides | chromosome 4 | Cell activation | Lymphocytes B | Development | Autoimmune diseases | Genotypes | Phagocytosis | Linkage analysis
Journal Article
Blood, ISSN 0006-4971, 04/2012, Volume 119, Issue 15, pp. 3450 - 3457
We describe a novel clinical phenotype associating T- and B-cell lymphopenia, intermittent neutropenia, and atrial septal defects in 3 members of a...
APOPTOSIS | OXIDATIVE-STRESS | KINASE MST1 | ACTIVATION | ORGAN SIZE CONTROL | PHOSPHORYLATION | PATHWAY | CONGENITAL NEUTROPENIA | MUTATIONS | CASPASE CLEAVAGE | HEMATOLOGY | Protein-Serine-Threonine Kinases - deficiency | Immunologic Deficiency Syndromes - complications | Humans | Protein-Serine-Threonine Kinases - genetics | Child, Preschool | Male | Case-Control Studies | Neutropenia - etiology | Phenotype | DNA Mutational Analysis | Pedigree | Base Sequence | Immunologic Deficiency Syndromes - genetics | Female | Immunologic Deficiency Syndromes - blood | Consanguinity | Neutropenia - blood | Immunologic Deficiency Syndromes - immunology | Iran - epidemiology | Neutropenia - genetics | Neutropenia - immunology | Immunobiology | Phagocytes, Granulocytes, and Myelopoiesis
APOPTOSIS | OXIDATIVE-STRESS | KINASE MST1 | ACTIVATION | ORGAN SIZE CONTROL | PHOSPHORYLATION | PATHWAY | CONGENITAL NEUTROPENIA | MUTATIONS | CASPASE CLEAVAGE | HEMATOLOGY | Protein-Serine-Threonine Kinases - deficiency | Immunologic Deficiency Syndromes - complications | Humans | Protein-Serine-Threonine Kinases - genetics | Child, Preschool | Male | Case-Control Studies | Neutropenia - etiology | Phenotype | DNA Mutational Analysis | Pedigree | Base Sequence | Immunologic Deficiency Syndromes - genetics | Female | Immunologic Deficiency Syndromes - blood | Consanguinity | Neutropenia - blood | Immunologic Deficiency Syndromes - immunology | Iran - epidemiology | Neutropenia - genetics | Neutropenia - immunology | Immunobiology | Phagocytes, Granulocytes, and Myelopoiesis
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 11/2006, Volume 34, Issue 20, pp. 5966 - 5973
Protein sequence database search programs may be evaluated both for their retrieval accuracy the ability to separate meaningful from chance similarities-and...
P-VALUES | DISTRIBUTIONS | ALIGNMENT | BIOCHEMISTRY & MOLECULAR BIOLOGY | COMPLEXITY | ACID SUBSTITUTION MATRICES | PSI-BLAST | HIDDEN MARKOV-MODELS | COILED COILS | PREDICTION | TOOL | Sequence Analysis, Protein | Data Interpretation, Statistical | Reproducibility of Results | Sequence Alignment | Software | Databases, Protein | Computational Biology
P-VALUES | DISTRIBUTIONS | ALIGNMENT | BIOCHEMISTRY & MOLECULAR BIOLOGY | COMPLEXITY | ACID SUBSTITUTION MATRICES | PSI-BLAST | HIDDEN MARKOV-MODELS | COILED COILS | PREDICTION | TOOL | Sequence Analysis, Protein | Data Interpretation, Statistical | Reproducibility of Results | Sequence Alignment | Software | Databases, Protein | Computational Biology
Journal Article