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Lancet, The, ISSN 0140-6736, 2014, Volume 383, Issue 9915, pp. 436 - 448
Summary Background In chronic granulomatous disease allogeneic haemopoietic stem-cell transplantation (HSCT) in adolescents and young adults and patients with... 
Internal Medicine | NADPH OXIDASE | MEDICINE, GENERAL & INTERNAL | EXCELLENT SURVIVAL | IN-VITRO | UNRELATED DONOR | BONE-MARROW-TRANSPLANTATION | EUROPEAN EXPERIENCE | INTRAVENOUS BUSULFAN | RECONSTITUTION | NONMALIGNANT DISEASES | CHILDREN | Transplantation Chimera - physiology | Prospective Studies | Humans | Child, Preschool | Infant | Treatment Outcome | Granulomatous Disease, Chronic - therapy | Vidarabine - analogs & derivatives | Alemtuzumab | Antilymphocyte Serum - administration & dosage | Busulfan - administration & dosage | Young Adult | Antibodies, Monoclonal, Humanized - administration & dosage | Adolescent | Adult | Graft vs Host Disease - prevention & control | Vidarabine - administration & dosage | HLA Antigens | Hematopoietic Stem Cell Transplantation - methods | Transplantation Conditioning - methods | Drug Therapy, Combination | Graft Survival - drug effects | Child | Immunosuppressive Agents - administration & dosage | Granuloma | Care and treatment | Histocompatibility antigens | Patient outcomes | HLA histocompatibility antigens | Stem cells | Transplantation | Identification and classification | Bone marrow | Teenagers | Transplants & implants | Mortality | Pediatrics | Immunologi inom det medicinska området | Pediatrik | hematopoietisk stamcellstransplantation | chronic granulomatous disease | Immunology in the medical area
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 1, pp. 223 - 230
Journal Article
PLoS ONE, ISSN 1932-6203, 2009, Volume 4, Issue 4, pp. e5234 - e5234
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 116 - 126.e11
Background Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation.... 
Allergy and Immunology | patient self-reported outcomes | treatment | Common variable immunodeficiency | primary antibody deficiency | autoimmunity | enteropathy | immunoglobulin replacement | quality of life | lymphadenopathy | granulomas | INFECTIONS | PHENOTYPES | IMMUNOLOGY | DEFICIENCY | IGM | TRIAL | B-CELL | ALLERGY | HYPOGAMMAGLOBULINEMIA | INTRAVENOUS IMMUNOGLOBULIN | DISEASE | Autoimmunity | Common Variable Immunodeficiency - immunology | Common Variable Immunodeficiency - drug therapy | Humans | Child, Preschool | Lymphoproliferative Disorders - complications | Male | Lymphoproliferative Disorders - immunology | Splenomegaly - pathology | Bronchiectasis - pathology | Common Variable Immunodeficiency - mortality | Pneumonia - mortality | Pneumonia - immunology | Adult | Female | Retrospective Studies | Child | Europe | Delayed Diagnosis | Common Variable Immunodeficiency - complications | Lymphoproliferative Disorders - mortality | Pneumonia - drug therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Age of Onset | Survival Analysis | Pneumonia - complications | Lymphoproliferative Disorders - drug therapy | Immunological deficiency syndromes | Care and treatment | Health aspects | Respiratory tract diseases | Studies | Pneumonia | Meningitis | Lymphomas | Multivariate analysis | Patients | Age | Data bases
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2009, Volume 124, Issue 6, pp. 1311 - 1318.e7
Background Defects in the development or activation of T cells result in immunodeficiency associated with severe infections early in life. T-cell activation... 
Allergy and Immunology | calcium channel | store-operated Ca | signal transduction | anhydrotic ectodermal dysplasia | T cells | CRAC | amelogenesis imperfecta | dental enamel | entry | STIM1 | ORAI1 | immunodeficiency | congenital myopathy | ACTIVATED CALCIUM-CHANNELS | IMMUNE-DEFICIENCY | IMMUNOLOGY | T-CELL IMMUNODEFICIENCY | MICE LACKING | SKELETAL-MUSCLE | INFLUX | ALLERGY | Ca2 | store-operated Ca2+ entry | MUTATION | PORE SUBUNIT | CRAC CHANNEL | Immunologic Deficiency Syndromes - pathology | Cell Adhesion Molecules - genetics | Frameshift Mutation | Calcium Channels - metabolism | Calcium - metabolism | Humans | Mutation, Missense | Neoplasm Proteins - metabolism | Ectodermal Dysplasia - metabolism | Transfection | Ectodermal Dysplasia - pathology | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Calcium Channels - genetics | Stromal Interaction Molecule 1 | ORAI2 Protein | Membrane Proteins - genetics | Muscular Diseases - metabolism | Stromal Interaction Molecule 2 | Muscular Diseases - pathology | Cell Adhesion Molecules - metabolism | ORAI1 Protein | Homozygote | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Ectodermal Dysplasia - genetics | Muscular Diseases - genetics | Calcium Channels - deficiency | Proteins | Cytomegalovirus | Cell growth | Plasmids | Lymphocytes | Cloning | Protein expression | Mutation | Gene expression | Patients | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 3, pp. 840 - 848
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2008, Volume 118, Issue 9, pp. 3132 - 3142
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2010, Volume 126, Issue 3, pp. 611 - 617.e1
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 212 - 219.e3
Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells in human subjects, causing hemolytic... 
Allergy and Immunology | Glucose-6-phosphate dehydrogenase deficiency | NADPH | immunodeficiency | innate immunity | neutrophil extracellular trap formation | chronic granulomatous disease | NADPH OXIDASE | CHRONIC NONSPHEROCYTIC ANEMIA | G6PD DEFICIENCY | CHRONIC GRANULOMATOUS-DISEASE | GRANULOCYTE DYSFUNCTION | IMMUNOLOGY | neutrophil extracellular trap forma-tion | HEMOLYTIC-ANEMIA | NEUTROPHIL EXTRACELLULAR TRAPS | DEHYDROGENASE-DEFICIENCY | BACTERICIDAL ACTIVITY | ALLERGY | LEUKOCYTE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE | Leukocyte Elastase - metabolism | Disease Susceptibility | Reactive Oxygen Species - metabolism | Extracellular Traps - metabolism | Humans | Infant | Male | Glucosephosphate Dehydrogenase Deficiency - diagnosis | Bacterial Infections | Erythrocytes - metabolism | Glucosephosphate Dehydrogenase - metabolism | Glucosephosphate Dehydrogenase Deficiency - metabolism | Glucosephosphate Dehydrogenase - genetics | Granulocytes - metabolism | NADP - metabolism | Child | Glucosephosphate Dehydrogenase Deficiency - genetics | Phosphates | Niacinamide | Purines | Enzymes | Anemia | Communicable diseases | Disease susceptibility | Glucose | Health aspects | Dextrose | Oxidases | Analysis | Pneumonia | Dehydrogenases | Neutrophils | African Americans | Staphylococcus infections | Patients | Defects | Streptococcus infections | Proteins | Tonsillitis | Antibiotics | Sepsis | Age | Viral infections
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2009, Volume 124, Issue 3, pp. 536 - 543
Background Mutations in serine protease inhibitor Kazal-type 5 ( SPINK5 ), encoding the serine protease inhibitor lympho-epithelial Kazal-type 5 related... 
Allergy and Immunology | immune deficiency | NK-cell cytotoxicity | Comèl-Netherton syndrome | bamboo hair | SPINK5 | LEKTI | IVIG | selective antibody deficiency | ichthyosis | atopic diathesis | WISKOTT-ALDRICH-SYNDROME | IGM SYNDROME | ERYTHRODERMA | PERIPHERAL-BLOOD | IMMUNOLOGY | MEMORY B-CELLS | NK CELLS | ALLERGY | Comel-Netherton syndrome | MUTATIONS | ANTIBODY-RESPONSES | EXPRESSION | T-Lymphocytes, Regulatory - metabolism | Humans | Proteinase Inhibitory Proteins, Secretory - genetics | Proteinase Inhibitory Proteins, Secretory - metabolism | Child, Preschool | Male | Serine Peptidase Inhibitor Kazal-Type 5 | Proteinase Inhibitory Proteins, Secretory - biosynthesis | T-Lymphocytes, Regulatory - immunology | Staphylococcal Skin Infections - drug therapy | Natural Killer T-Cells - metabolism | Staphylococcal Skin Infections - immunology | Female | Immunologic Deficiency Syndromes - immunology | Child | B-Lymphocytes - metabolism | Staphylococcus aureus | Cytokines - blood | B-Lymphocytes - immunology | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - drug therapy | Mutation | Immunologic Factors - therapeutic use | Natural Killer T-Cells - immunology | Staphylococcal Skin Infections - genetics | Medical colleges | Immunoglobulins | Genetic disorders | Protease inhibitors | Immunodeficiency | Fluorescein | Thrombin | T cells | Food allergies | Pneumonia | Cytokines | Cytotoxicity | Patients | Allergies | Asthma | Lymphocytes | Eczema | Age | Deoxyribonucleic acid--DNA | Immune system | Food | Comèl-Netherton Syndrome | NK cell cytotoxicity
Journal Article