Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 127, Issue 6, pp. 1408 - 1409
 The use of embryonic stem cells had already shown the enormous potential of stem cell medicine in allowing the generation of different tissues, organs, and...
Allergy and Immunology | gene therapy | primary immunodeficiencies | disease pathogenesis | Induced pluripotent stem cells | ALLERGY | IMMUNOLOGY | HUMAN SOMATIC-CELLS | Induced Pluripotent Stem Cells - pathology | Immunologic Deficiency Syndromes - pathology | Immunologic Deficiency Syndromes - therapy | Induced Pluripotent Stem Cells - physiology | Humans | Induced Pluripotent Stem Cells - transplantation | Cell Dedifferentiation | Animals | Immunologic Deficiency Syndromes - physiopathology | Cell Transdifferentiation | Cell Differentiation | Induced Pluripotent Stem Cells - immunology | Mice | Immunologic Deficiency Syndromes - immunology | Studies | Genotype & phenotype | Transcription factors | Sickle cell anemia | Pathogenesis | Stem cells | Mutation | Gene therapy | Gene expression | Patients
Allergy and Immunology | gene therapy | primary immunodeficiencies | disease pathogenesis | Induced pluripotent stem cells | ALLERGY | IMMUNOLOGY | HUMAN SOMATIC-CELLS | Induced Pluripotent Stem Cells - pathology | Immunologic Deficiency Syndromes - pathology | Immunologic Deficiency Syndromes - therapy | Induced Pluripotent Stem Cells - physiology | Humans | Induced Pluripotent Stem Cells - transplantation | Cell Dedifferentiation | Animals | Immunologic Deficiency Syndromes - physiopathology | Cell Transdifferentiation | Cell Differentiation | Induced Pluripotent Stem Cells - immunology | Mice | Immunologic Deficiency Syndromes - immunology | Studies | Genotype & phenotype | Transcription factors | Sickle cell anemia | Pathogenesis | Stem cells | Mutation | Gene therapy | Gene expression | Patients
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 4, pp. 988 - 997.e6
Background Common variable immunodeficiency (CVID) is usually well controlled with immunoglobulin substitution and immunomodulatory drugs. A subgroup of...
Allergy and Immunology | Common variable immunodeficiency | immunologic reconstitution | survival | hematopoietic stem cell transplantation | immunoglobulin substitution/replacement | mortality | hypogammaglobulinemia | outcome | BONE-MARROW-TRANSPLANTATION | ACUTE GVHD | DISORDERS | CLASSIFICATION | SEVERE APLASTIC-ANEMIA | EUROPEAN GROUP | VERSUS-HOST-DISEASE | WORKING PARTY | Journal Article | B-CELL | Research Support, Non-U.S. Gov't | Multicenter Study | BLOOD | ABNORMALITIES | BONE-MARROW | IMMUNOLOGY | ALLERGY | Follow-Up Studies | Humans | Middle Aged | Graft Survival | Male | Treatment Outcome | Common Variable Immunodeficiency - complications | Cause of Death | Young Adult | Common Variable Immunodeficiency - mortality | Common Variable Immunodeficiency - therapy | Adolescent | Hematopoietic Stem Cell Transplantation - adverse effects | Adult | Female | Graft vs Host Disease - prevention & control | Retrospective Studies | Transplantation Conditioning | Child | Graft vs Host Disease - etiology | Hematopoietic Stem Cells | Complications and side effects | Hospitals | Mortality | Stem cells | Immunological deficiency syndromes | Transplantation | Hematopoietic stem cells | Cytomegalovirus | Life expectancy | Transplants & implants | Lung diseases | Liver | Values | Infections | Patients | Variables | Cell growth | Software | Lymphomas | Age
Allergy and Immunology | Common variable immunodeficiency | immunologic reconstitution | survival | hematopoietic stem cell transplantation | immunoglobulin substitution/replacement | mortality | hypogammaglobulinemia | outcome | BONE-MARROW-TRANSPLANTATION | ACUTE GVHD | DISORDERS | CLASSIFICATION | SEVERE APLASTIC-ANEMIA | EUROPEAN GROUP | VERSUS-HOST-DISEASE | WORKING PARTY | Journal Article | B-CELL | Research Support, Non-U.S. Gov't | Multicenter Study | BLOOD | ABNORMALITIES | BONE-MARROW | IMMUNOLOGY | ALLERGY | Follow-Up Studies | Humans | Middle Aged | Graft Survival | Male | Treatment Outcome | Common Variable Immunodeficiency - complications | Cause of Death | Young Adult | Common Variable Immunodeficiency - mortality | Common Variable Immunodeficiency - therapy | Adolescent | Hematopoietic Stem Cell Transplantation - adverse effects | Adult | Female | Graft vs Host Disease - prevention & control | Retrospective Studies | Transplantation Conditioning | Child | Graft vs Host Disease - etiology | Hematopoietic Stem Cells | Complications and side effects | Hospitals | Mortality | Stem cells | Immunological deficiency syndromes | Transplantation | Hematopoietic stem cells | Cytomegalovirus | Life expectancy | Transplants & implants | Lung diseases | Liver | Values | Infections | Patients | Variables | Cell growth | Software | Lymphomas | Age
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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, 2016, Volume 138, Issue 3, pp. 852 - 859.e3
Background Dedicator of cytokinesis 8 (DOCK8) deficiency can be cured by allogeneic hematopoietic stem cell transplantation (HSCT). Reports of outcomes are...
Allergy and Immunology | hematopoietic stem cell transplantation | dedicator of cytokinesis 8 deficiency | mixed chimerism | conditioning | Primary immunodeficiency | HYPER-IGE SYNDROME | SURVIVAL | ALLERGY | DOCK8 DEFICIENCY | PHENOTYPE | MUTATIONS | IMMUNOLOGY | conditioning mixed chimerism | Humans | Child, Preschool | Hematopoietic Stem Cell Transplantation | Male | Treatment Outcome | B-Lymphocytes - immunology | Leukocytes, Mononuclear - immunology | Female | T-Lymphocytes - immunology | Immunologic Deficiency Syndromes - immunology | Child | Guanine Nucleotide Exchange Factors - deficiency | Cytokines - immunology | Patient outcomes | Children's hospitals | Immunodeficiency | Stem cells | Transplantation | Children | Research institutes | Health aspects | Hematopoietic stem cells | Diseases | Analysis | Food allergies | Flow cytometry | Transplants & implants | Cytokines | Laboratories | Mortality | Eczema | Infections | Patients | Viral infections | Age | DOCK8 deficiency
Allergy and Immunology | hematopoietic stem cell transplantation | dedicator of cytokinesis 8 deficiency | mixed chimerism | conditioning | Primary immunodeficiency | HYPER-IGE SYNDROME | SURVIVAL | ALLERGY | DOCK8 DEFICIENCY | PHENOTYPE | MUTATIONS | IMMUNOLOGY | conditioning mixed chimerism | Humans | Child, Preschool | Hematopoietic Stem Cell Transplantation | Male | Treatment Outcome | B-Lymphocytes - immunology | Leukocytes, Mononuclear - immunology | Female | T-Lymphocytes - immunology | Immunologic Deficiency Syndromes - immunology | Child | Guanine Nucleotide Exchange Factors - deficiency | Cytokines - immunology | Patient outcomes | Children's hospitals | Immunodeficiency | Stem cells | Transplantation | Children | Research institutes | Health aspects | Hematopoietic stem cells | Diseases | Analysis | Food allergies | Flow cytometry | Transplants & implants | Cytokines | Laboratories | Mortality | Eczema | Infections | Patients | Viral infections | Age | DOCK8 deficiency
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1302 - 1310.e4
Abstract Background Absent T cell immunity resulting in life-threatening infections provides a clear rationale for hematopoetic stem cell transplantation...
Allergy and Immunology | hematopoietic stem cell transplantation | T-cell deficiency | natural history | combined immunodeficiency | ALLERGY | IMMUNOLOGY | DIAGNOSTIC-CRITERIA | SELECTION | DEFICIENCY | FEATURES | Prospective Studies | Humans | Child, Preschool | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - therapy | Infant | Male | Severe Combined Immunodeficiency - immunology | Adolescent | Female | Severe Combined Immunodeficiency - pathology | Child | Research Design | Autoimmunity | Medical research | Immunogenetics | Analysis | Stem cells | Immunodeficiency | Medicine, Experimental | Transplantation | T cells | Immune response | Parameters | Transplants & implants | Disease | Mortality | Infections | T cell receptors | Lymphocytes T | Medical screening | Kinases | Decision analysis | Immunity | Consortia | Proteins | Lymphocytes | Medical prognosis | Mutation | Diagnosis | Immune system
Allergy and Immunology | hematopoietic stem cell transplantation | T-cell deficiency | natural history | combined immunodeficiency | ALLERGY | IMMUNOLOGY | DIAGNOSTIC-CRITERIA | SELECTION | DEFICIENCY | FEATURES | Prospective Studies | Humans | Child, Preschool | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - therapy | Infant | Male | Severe Combined Immunodeficiency - immunology | Adolescent | Female | Severe Combined Immunodeficiency - pathology | Child | Research Design | Autoimmunity | Medical research | Immunogenetics | Analysis | Stem cells | Immunodeficiency | Medicine, Experimental | Transplantation | T cells | Immune response | Parameters | Transplants & implants | Disease | Mortality | Infections | T cell receptors | Lymphocytes T | Medical screening | Kinases | Decision analysis | Immunity | Consortia | Proteins | Lymphocytes | Medical prognosis | Mutation | Diagnosis | Immune system
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2009, Volume 124, Issue 6, pp. 1152 - 1160.e12
More than 20 North American academic centers account for the majority of hematopoietic stem cell transplantation (HCT) procedures for primary immunodeficiency...
Allergy and Immunology | clinical trial | primary immunodeficiency | Allogeneic hematopoietic stem cell transplantation | gene therapy | CELLS | SEVERE COMBINED IMMUNODEFICIENCY | AUTOIMMUNE HEMOLYTIC-ANEMIA | gene therapy | IMMUNOLOGY | VERSUS-HOST-DISEASE | EUROPEAN-SOCIETY | THYMIC OUTPUT | ALLERGY | GENE-THERAPY | MARROW-TRANSPLANTATION | MOLECULAR DEFECTS | BLOOD | Immunologic Deficiency Syndromes - surgery | Severe Combined Immunodeficiency - diagnosis | Humans | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - surgery | Immunologic Deficiency Syndromes - diagnosis | Child | Practice Guidelines as Topic | Allergy | Medical colleges | Care and treatment | Pneumonia | Molecular genetics | Gamma globulins | Transplantation | Research | Allergic reaction | Hematopoietic stem cells | Lymphocytes | Immunotherapy | Bone marrow | Management techniques | Children | Health aspects | Adenosine | Bacterial pneumonia | Oncology, Experimental | Children's hospitals | Immunodeficiency | Management | Diseases | Cyclophosphamide | Gene therapy | Cancer | Cytomegalovirus | Infections | Vaccines | Transplants & implants | Patients | Immune system | Workshop Summaries
Allergy and Immunology | clinical trial | primary immunodeficiency | Allogeneic hematopoietic stem cell transplantation | gene therapy | CELLS | SEVERE COMBINED IMMUNODEFICIENCY | AUTOIMMUNE HEMOLYTIC-ANEMIA | gene therapy | IMMUNOLOGY | VERSUS-HOST-DISEASE | EUROPEAN-SOCIETY | THYMIC OUTPUT | ALLERGY | GENE-THERAPY | MARROW-TRANSPLANTATION | MOLECULAR DEFECTS | BLOOD | Immunologic Deficiency Syndromes - surgery | Severe Combined Immunodeficiency - diagnosis | Humans | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - surgery | Immunologic Deficiency Syndromes - diagnosis | Child | Practice Guidelines as Topic | Allergy | Medical colleges | Care and treatment | Pneumonia | Molecular genetics | Gamma globulins | Transplantation | Research | Allergic reaction | Hematopoietic stem cells | Lymphocytes | Immunotherapy | Bone marrow | Management techniques | Children | Health aspects | Adenosine | Bacterial pneumonia | Oncology, Experimental | Children's hospitals | Immunodeficiency | Management | Diseases | Cyclophosphamide | Gene therapy | Cancer | Cytomegalovirus | Infections | Vaccines | Transplants & implants | Patients | Immune system | Workshop Summaries
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1604 - 1610
Background Adenosine deaminase (ADA)–severe combined immunodeficiency (SCID) is caused by genetic variants that disrupt the function of ADA. In its early-onset...
Allergy and Immunology | tandem-mass-spectrometry | genetics | delayed-onset | Adenosine deaminase–severe combined immunodeficiency | inherited disorder | Adenosine deaminase | T-cell receptor excision circle | severe combined immunodeficiency | newborn screening | late-onset | Adenosine deaminase-severe combined immunodeficiency | BONE-MARROW-TRANSPLANTATION | IMMUNOLOGY | ENZYME | ALLERGY | MUTATIONS | ADA DEFICIENCY | EXPRESSION | Adenosine Deaminase - genetics | Severe Combined Immunodeficiency - diagnosis | Humans | Agammaglobulinemia - diagnosis | Immunophenotyping | Deoxyadenosines - metabolism | Adenosine Deaminase - blood | Lymphocyte Subsets - metabolism | Tandem Mass Spectrometry | Receptors, Antigen, T-Cell - blood | Erythrocytes - metabolism | Immunoglobulins - blood | Receptors, Antigen, T-Cell - genetics | Retrospective Studies | Enzyme Activation | Adenosine Deaminase - deficiency | Infant, Newborn | Infants (Newborn) | Adenosine | Analysis | Immunodeficiency | Universities and colleges | Children | T cells | Mass spectrometry | Health aspects | Urine | Pediatrics | Disease | Mortality | Medical screening | Patients | Immunology | Newborn babies | Metabolites | Lymphocytes | Metabolic disorders | Methods | Immune system
Allergy and Immunology | tandem-mass-spectrometry | genetics | delayed-onset | Adenosine deaminase–severe combined immunodeficiency | inherited disorder | Adenosine deaminase | T-cell receptor excision circle | severe combined immunodeficiency | newborn screening | late-onset | Adenosine deaminase-severe combined immunodeficiency | BONE-MARROW-TRANSPLANTATION | IMMUNOLOGY | ENZYME | ALLERGY | MUTATIONS | ADA DEFICIENCY | EXPRESSION | Adenosine Deaminase - genetics | Severe Combined Immunodeficiency - diagnosis | Humans | Agammaglobulinemia - diagnosis | Immunophenotyping | Deoxyadenosines - metabolism | Adenosine Deaminase - blood | Lymphocyte Subsets - metabolism | Tandem Mass Spectrometry | Receptors, Antigen, T-Cell - blood | Erythrocytes - metabolism | Immunoglobulins - blood | Receptors, Antigen, T-Cell - genetics | Retrospective Studies | Enzyme Activation | Adenosine Deaminase - deficiency | Infant, Newborn | Infants (Newborn) | Adenosine | Analysis | Immunodeficiency | Universities and colleges | Children | T cells | Mass spectrometry | Health aspects | Urine | Pediatrics | Disease | Mortality | Medical screening | Patients | Immunology | Newborn babies | Metabolites | Lymphocytes | Metabolic disorders | Methods | Immune system
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 634 - 642.e5
Background Signaling through the T-cell receptor (TCR) is critical for T-cell development and function. Linker for activation of TÂ cells (LAT) is a...
Allergy and Immunology | T lymphopenia | immunodeficiency | linker for activation of TÂ cells | Severe combined immunodeficiency | genetic defect | T-cell receptor signaling | TYROSINE PHOSPHORYLATION | linker for activation of T cells | ANTIGEN RECEPTOR COMPLEX | DEATH | IMMUNOLOGY | DEFICIENCY | SIGNAL-TRANSDUCTION | ALLERGY | DISEASE | MICE | CD3-EPSILON GENE | ADAPTER PROTEIN | EXPRESSION | T-Lymphocytes - physiology | Receptors, Antigen, T-Cell - metabolism | Jurkat Cells | Lymphocyte Activation | Membrane Proteins - genetics | Humans | Transgenes - genetics | Genotype | Male | Homozygote | Severe Combined Immunodeficiency - genetics | Pakistan | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Female | Cell Differentiation | Consanguinity | Membrane Proteins - metabolism | Receptors, Antigen, T-Cell - genetics | Adaptor Proteins, Signal Transducing - metabolism | Calcium Signaling - genetics | Apoptosis | Sequence Deletion - genetics | Medical genetics | Bone marrow | Genetic aspects | Transplantation | Children | Research institutes | T cells | Health aspects | Consulting services | Killer cells | Analysis | Genetic research | Genetic polymorphisms | Phosphorylation | Immunoglobulins | Transplants & implants | Genes | Kinases | Defects | Proteins | Studies | Signal transduction | Lymphocytes | Rodents | Mutation | Deoxyribonucleic acid--DNA
Allergy and Immunology | T lymphopenia | immunodeficiency | linker for activation of TÂ cells | Severe combined immunodeficiency | genetic defect | T-cell receptor signaling | TYROSINE PHOSPHORYLATION | linker for activation of T cells | ANTIGEN RECEPTOR COMPLEX | DEATH | IMMUNOLOGY | DEFICIENCY | SIGNAL-TRANSDUCTION | ALLERGY | DISEASE | MICE | CD3-EPSILON GENE | ADAPTER PROTEIN | EXPRESSION | T-Lymphocytes - physiology | Receptors, Antigen, T-Cell - metabolism | Jurkat Cells | Lymphocyte Activation | Membrane Proteins - genetics | Humans | Transgenes - genetics | Genotype | Male | Homozygote | Severe Combined Immunodeficiency - genetics | Pakistan | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Female | Cell Differentiation | Consanguinity | Membrane Proteins - metabolism | Receptors, Antigen, T-Cell - genetics | Adaptor Proteins, Signal Transducing - metabolism | Calcium Signaling - genetics | Apoptosis | Sequence Deletion - genetics | Medical genetics | Bone marrow | Genetic aspects | Transplantation | Children | Research institutes | T cells | Health aspects | Consulting services | Killer cells | Analysis | Genetic research | Genetic polymorphisms | Phosphorylation | Immunoglobulins | Transplants & implants | Genes | Kinases | Defects | Proteins | Studies | Signal transduction | Lymphocytes | Rodents | Mutation | Deoxyribonucleic acid--DNA
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Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 3, pp. 948 - 951.e5
 The R403H mutation is present in the Catalogue of Somatic Mutations In Cancer database and was found to be associated with severe combined immunodeficiency...
Allergy and Immunology | DEFECTS | INTERFERON-GAMMA | ALLERGY | RECURRENT | TAIWAN | SUSCEPTIBILITY | DISEASE | NONTUBERCULOUS MYCOBACTERIAL INFECTIONS | PATIENT | IMMUNOLOGY | IFN-GAMMA AUTOANTIBODIES | MANIFESTATIONS | Diagnosis, Differential | Gene Expression | Severe Combined Immunodeficiency - diagnosis | Humans | Child, Preschool | Immunophenotyping | Severe Combined Immunodeficiency - genetics | Skin Diseases - diagnosis | B-Lymphocytes - immunology | T-Lymphocytes - metabolism | Biopsy | Janus Kinase 3 - genetics | Female | T-Lymphocytes - immunology | Mutation | Granuloma - diagnosis | Janus Kinase 3 - metabolism | B-Lymphocytes - metabolism | Genetic aspects | Skin | Children | Health aspects | Children's hospitals | Immunodeficiency | Phosphorylation | Immunoglobulins | Diarrhea | T cell receptors | Infections | Genomes | Patients | DNA repair | Blood | Proteins | Immunology | Lymphocytes | Protein expression | Tetanus | Age | Deoxyribonucleic acid--DNA
Allergy and Immunology | DEFECTS | INTERFERON-GAMMA | ALLERGY | RECURRENT | TAIWAN | SUSCEPTIBILITY | DISEASE | NONTUBERCULOUS MYCOBACTERIAL INFECTIONS | PATIENT | IMMUNOLOGY | IFN-GAMMA AUTOANTIBODIES | MANIFESTATIONS | Diagnosis, Differential | Gene Expression | Severe Combined Immunodeficiency - diagnosis | Humans | Child, Preschool | Immunophenotyping | Severe Combined Immunodeficiency - genetics | Skin Diseases - diagnosis | B-Lymphocytes - immunology | T-Lymphocytes - metabolism | Biopsy | Janus Kinase 3 - genetics | Female | T-Lymphocytes - immunology | Mutation | Granuloma - diagnosis | Janus Kinase 3 - metabolism | B-Lymphocytes - metabolism | Genetic aspects | Skin | Children | Health aspects | Children's hospitals | Immunodeficiency | Phosphorylation | Immunoglobulins | Diarrhea | T cell receptors | Infections | Genomes | Patients | DNA repair | Blood | Proteins | Immunology | Lymphocytes | Protein expression | Tetanus | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 215 - 218.e3
Allergy and Immunology | Homozygote | Immunologic Deficiency Syndromes/complications | DNA Mutational Analysis | I-kappa B Kinase/deficiency | Humans | Fatal Outcome | Female | Infant | Consanguinity | Codon, Nonsense | Mycobacterium Infections/complications | ACTIVATION | ALLERGY | LIVER DEGENERATION | ANHIDROTIC ECTODERMAL DYSPLASIA | ALPHA | MICE | IMMUNOLOGY | NF-KAPPA-B | NEMO | Immunologic Deficiency Syndromes - pathology | I-kappa B Kinase - deficiency | Immunologic Deficiency Syndromes - complications | I-kappa B Kinase - genetics | Mycobacterium Infections - complications | Mycobacterium Infections - immunology | Mycobacterium Infections - genetics | Immunologic Deficiency Syndromes - genetics | I-kappa B Kinase - immunology | Mycobacterium Infections - pathology | Immunologic Deficiency Syndromes - immunology | Letter to the Editor
Journal Article
Biology of Blood and Marrow Transplantation, ISSN 1083-8791, 2016, Volume 22, Issue 3, pp. S103 - S104
(16) Dept.of Pediatric Immunology and Allergy and BMT Unit, Ankara University Medical School, Ankara, Turkey
Hematology, Oncology and Palliative Medicine | Medicine, Experimental | Medical research | Allergy | Children | Health aspects | Allergic reaction
Hematology, Oncology and Palliative Medicine | Medicine, Experimental | Medical research | Allergy | Children | Health aspects | Allergic reaction
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 242 - 243
 [...]in mice reconstituted with low Rag1 expression, a block in development can be seen at the immature single positive to DP transition. [...]the level of...
Allergy and Immunology | MICE | IMMUNOLOGY | ALLERGY | INSIGHTS | Genetic Therapy | Severe Combined Immunodeficiency - genetics | Animals | Humans | Severe Combined Immunodeficiency - therapy | Female | Lentivirus - genetics | Male | Genetic Vectors - genetics | Homeodomain Proteins - genetics | Gene therapy | Gene expression | Immune system
Allergy and Immunology | MICE | IMMUNOLOGY | ALLERGY | INSIGHTS | Genetic Therapy | Severe Combined Immunodeficiency - genetics | Animals | Humans | Severe Combined Immunodeficiency - therapy | Female | Lentivirus - genetics | Male | Genetic Vectors - genetics | Homeodomain Proteins - genetics | Gene therapy | Gene expression | Immune system
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 127, Issue 5, pp. 1253 - 1259.e13
Background Mutations in TNFRSF13B , the gene encoding transmembrane activator and calcium modulator cyclophilin ligand interactor (TACI), are found in 10% of...
Allergy and Immunology | B cell | transmembrane activator and calcium modulator cyclophilin ligand | a proliferation-inducing ligand | primary immunodeficiency | Hypogammaglobulinemia | lymphoproliferation | common variable immunodeficiency | SURVIVAL | BAFF | VARIANTS | RECEPTOR | IGA DEFICIENCY | IMMUNOLOGY | TACI | ALLERGY | DISEASE | BINDING | APRIL | Cell Line | Common Variable Immunodeficiency - immunology | Humans | Mice, Inbred C57BL | B-Lymphocytes - physiology | Homeostasis | Common Variable Immunodeficiency - genetics | Male | Mice, Knockout | Transmembrane Activator and CAML Interactor Protein - metabolism | Homozygote | Transmembrane Activator and CAML Interactor Protein - genetics | Lymphocyte Activation - immunology | Animals | B-Lymphocytes - immunology | T-Lymphocytes - cytology | Antibody Formation | Common Variable Immunodeficiency - physiopathology | Female | Heterozygote | T-Lymphocytes - immunology | Mice | Mutation | Disease Models, Animal | Viral antibodies | Antibodies | Genetic aspects | Children | T cells | Health aspects | Spleen | Flow cytometry | Antigens | Lymphatic system | Calcium | Kinases | Signal transduction | Mutagenesis | Plasmids | Ligands | Binding sites | Methods
Allergy and Immunology | B cell | transmembrane activator and calcium modulator cyclophilin ligand | a proliferation-inducing ligand | primary immunodeficiency | Hypogammaglobulinemia | lymphoproliferation | common variable immunodeficiency | SURVIVAL | BAFF | VARIANTS | RECEPTOR | IGA DEFICIENCY | IMMUNOLOGY | TACI | ALLERGY | DISEASE | BINDING | APRIL | Cell Line | Common Variable Immunodeficiency - immunology | Humans | Mice, Inbred C57BL | B-Lymphocytes - physiology | Homeostasis | Common Variable Immunodeficiency - genetics | Male | Mice, Knockout | Transmembrane Activator and CAML Interactor Protein - metabolism | Homozygote | Transmembrane Activator and CAML Interactor Protein - genetics | Lymphocyte Activation - immunology | Animals | B-Lymphocytes - immunology | T-Lymphocytes - cytology | Antibody Formation | Common Variable Immunodeficiency - physiopathology | Female | Heterozygote | T-Lymphocytes - immunology | Mice | Mutation | Disease Models, Animal | Viral antibodies | Antibodies | Genetic aspects | Children | T cells | Health aspects | Spleen | Flow cytometry | Antigens | Lymphatic system | Calcium | Kinases | Signal transduction | Mutagenesis | Plasmids | Ligands | Binding sites | Methods
Journal Article