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Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 137, Issue 1, pp. 223 - 230
Allergy and Immunology | autoimmunity | LPS-responsive beige-like anchor protein | common variable Immunodeficiency | enteropathy | primary immunodeficiency | lymphoproliferation | hypogammaglobulinemia | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Immunologic Deficiency Syndromes - therapy | Humans | Immunosuppressive Agents - therapeutic use | Child, Preschool | Hematopoietic Stem Cell Transplantation | Infant | Male | Phenotype | B-Lymphocytes - immunology | Adaptor Proteins, Signal Transducing - deficiency | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Immunologic Deficiency Syndromes - metabolism | Female | T-Lymphocytes - immunology | Immunologic Deficiency Syndromes - drug therapy | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Immunologic Deficiency Syndromes - immunology | Child | Medical colleges | Developmental biology | Children's hospitals | Immunodeficiency | Stem cells | College graduates | Jewish schools | Genetic aspects | Cross infection | Transplantation | Nosocomial infections | Autoimmunity | Proteins | Inflammatory bowel disease | Genotype & phenotype | Rodents | Protein expression | Infections | Kinases | Patients | Apoptosis | Siblings | Index Medicus | Abridged Index Medicus
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 140, Issue 6, pp. 1721 - 1724
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Cytomegalovirus | Calcium channels | Genetic disorders | Pathogenesis | Immunodeficiency | Cytotoxicity | Infections | T cell receptors | Orai1 protein | Histiocytosis | Fever | Defects | Proteins | Databases | Lymphocytes | Bone marrow | Mutation | Lymphocytosis | Viral infections | CD40L | STIM1 | primary HLH | T cell activation defect | SOCE | ORAI1 | calcium flux | CRAC channelopathy | SCID | CMV
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1302 - 1310.e4
Allergy and Immunology | hematopoietic stem cell transplantation | T-cell deficiency | natural history | combined immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus | Abridged Index Medicus
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 137, Issue 5, pp. 1587 - 1591.e7
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Travelers | Blood banks | Medical colleges | Flow cytometry | Lymphocytes | Stem cells | Neutrophils | Ligands | Mutation | Labeling | Patients | Endoplasmic reticulum | Index Medicus | Abridged Index Medicus | store-operated calcium entry (SOCE) | STIM1 | ORAI1 | immunodeficiency | receptor-operated calcium entry (ROCE) | neutrophil granulocytes
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 130, Issue 4, pp. 991 - 994
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Purines and pyrimidines (gout, hyperuricemia...) | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Other metabolic disorders | Biological and medical sciences | Metabolic diseases | Medical sciences | Enzyme Replacement Therapy | Adenosine Deaminase - genetics | Humans | Adult | Genotype | Adenosine Deaminase - deficiency | Child | Early Diagnosis | Immunogenetics | Diagnosis | Universities and colleges | Mass spectrometry | Immunodeficiency | Genotype & phenotype | Lung diseases | T cell receptors | Mutation | Tetanus | Medical screening | Patients | Immune system | Asthma | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1604 - 1610
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 | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Purines and pyrimidines (gout, hyperuricemia...) | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Other metabolic disorders | Biological and medical sciences | Metabolic diseases | Medical sciences | 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 | Newborn babies | Metabolites | Lymphocytes | Metabolic disorders | Methods | Immune system | Index Medicus | Abridged Index Medicus
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 155 - 159.e3
Allergy and Immunology | Purine nucleoside phosphorylase | tandem mass spectrometry | delayed-onset | inherited disorder | purine nucleoside phosphorylase–combined immunodeficiency | T-cell receptor excision circle | severe combined immunodeficiency | newborn screening | late-onset | purine nucleoside phosphorylase-combined immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Biological and medical sciences | Medical sciences | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Immunologic Deficiency Syndromes - pathology | Dried Blood Spot Testing | Humans | Child, Preschool | Infant | Male | Deoxyguanosine - analysis | Neonatal Screening | Purine-Nucleoside Phosphorylase - genetics | Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis | Tandem Mass Spectrometry | Purine-Nucleoside Phosphorylase - deficiency | Inosine - analogs & derivatives | Female | Immunologic Deficiency Syndromes - diagnosis | Purine-Pyrimidine Metabolism, Inborn Errors - pathology | Infant, Newborn | Guanosine - analysis | Inosine - analysis | Inosine - metabolism | Guanosine - metabolism | Lymphocytes - pathology | DNA Repair | Adolescent | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Immunologic Deficiency Syndromes - genetics | Deoxyguanosine - metabolism | Mutation | Enzymes | Alkaloids | Neurosciences | Immunodeficiency | Nucleosides | Diagnosis | Children | Health aspects | Mass spectrometry | Genotype & phenotype | Metabolites | Disease | Newborn babies | Mortality | Infections | Medical screening | Patients | Index Medicus | Abridged Index Medicus | Clinical Medicine | Pediatrics | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Pediatrik
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Frontiers in immunology, ISSN 1664-3224, 12/2020, Volume 11, pp. 608802 - 608802
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Pediatric blood & cancer, ISSN 1545-5009, 06/2015, Volume 62, Issue 6, pp. 1091 - 1094
bone marrow failure | congenital (not HIV) | hematology | immunodeficiency | immunology | infections in imunocompromised host non‐malignant | Congenital (not HIV) | Immunology | Bone marrow failure | Hematology | Infections in imunocompromised host non-malignant | Immunodeficiency | Pediatrics | Oncology | Life Sciences & Biomedicine | Science & Technology | Folic Acid Deficiency - complications | Immunologic Deficiency Syndromes - etiology | Humans | Adolescent | Adult | Female | Male | Pancytopenia - etiology | Child | Malabsorption Syndromes - complications | Anemia | Folic acid | Lymphopenia | Vitamin B | Pancytopenia | Malabsorption | Diagnostic systems | Mutation | Transporter | Molecular chains | Cancer | Index Medicus
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Full Text
Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency
Journal of clinical immunology, ISSN 0271-9142, 03/2010, Volume 30, Issue 2, pp. 314 - 320
Inflammatory bowel disease | Artemis | Lymphopenia | Primary immunodeficiency | Life Sciences & Biomedicine | Immunology | Science & Technology | Humans | Inflammatory Bowel Diseases - diagnosis | Lymphopoiesis - genetics | Inflammatory Bowel Diseases - physiopathology | Transfection | DNA Mutational Analysis | Cloning, Molecular | Inflammatory Bowel Diseases - genetics | Female | Ulcer | Immunologic Deficiency Syndromes - diagnosis | Inflammatory Bowel Diseases - complications | Nuclear Proteins - genetics | Child | Cell Line | Immunologic Deficiency Syndromes - therapy | Diagnosis, Differential | Immunologic Deficiency Syndromes - complications | Hematopoietic Stem Cell Transplantation | Immunophenotyping | Nuclear Proteins - metabolism | Mutation - genetics | Nuclear Proteins - immunology | Disease-Free Survival | Immunologic Deficiency Syndromes - physiopathology | Endonucleases | Genes, T-Cell Receptor - genetics | Immunologic Deficiency Syndromes - genetics | Inflammatory Bowel Diseases - therapy | Immunogenetics | Genetic disorders | Gastrointestinal diseases | Immunodeficiency | Stem cells | Development and progression | Transplantation | Universities and colleges | Blood banks | T cells | Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2018, Volume 141, Issue 6, pp. 2303 - 2306
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Annals of the New York Academy of Sciences, ISSN 0077-8923, 06/2001, Volume 938, Issue 1, pp. 146 - 156
Retrovirus | Integration | Hematopoiesis | PCR | Stem cells | Bone Marrow Cells - chemistry | Blotting, Southern | Clone Cells - cytology | Virus Integration - genetics | Bone Marrow Cells - cytology | Hematopoietic Stem Cell Transplantation | Leukemia Virus, Murine - genetics | DNA, Viral - analysis | Graft Survival | DNA Primers - genetics | Genetic Markers | Clone Cells - chemistry | Polymerase Chain Reaction - methods | Animals | Blood Cells - cytology | Proviruses - genetics | Models, Biological | Hematopoietic Stem Cells - cytology | Leukemia Virus, Murine - isolation & purification | Sensitivity and Specificity | Mice | Hematopoietic Stem Cells - chemistry | Index Medicus
Journal Article
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