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MMW Fortschritte der Medizin, ISSN 1438-3276, 05/2016, Volume 158, Issue 10, pp. 49 - 52
Diagnosis, Differential | Humans | Child, Preschool | Cooperative Behavior | Infant | Opportunistic Infections - genetics | Interdisciplinary Communication | Algorithms | Disease Susceptibility - immunology | Adolescent | General Practice | Immunologic Deficiency Syndromes - genetics | Opportunistic Infections - immunology | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Child | Germany | Infant, Newborn | Index Medicus
Journal Article
Anales de pediatrÃa (Barcelona, Spain : 2003), ISSN 1695-4033, 06/2015, Volume 82, Issue 6, pp. 436 - 439
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Hair - abnormalities | Humans | Hirschsprung Disease - genetics | Child, Preschool | Infant | Male | Osteochondrodysplasias - diagnosis | Hirschsprung Disease - diagnosis | Molecular Diagnostic Techniques | Phenotype | Osteochondrodysplasias - genetics | Osteochondrodysplasias - congenital | RNA, Long Noncoding | Immunologic Deficiency Syndromes - genetics | Mutation | Immunologic Deficiency Syndromes - diagnosis
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Deutsche medizinische Wochenschrift, ISSN 0012-0472, 06/2017, Volume 142, Issue 11, pp. 829 - 832
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Blood, ISSN 0006-4971, 02/2014, Volume 123, Issue 6, pp. 809 - 821
Life Sciences & Biomedicine | Hematology | Science & Technology | Immunologic Deficiency Syndromes - pathology | Prognosis | Prospective Studies | Humans | Middle Aged | Infant | Male | GATA2 Transcription Factor - deficiency | Young Adult | Hematopoiesis | Immunologic Deficiency Syndromes - mortality | Adult | Female | Child | GATA2 Transcription Factor - genetics | Genetic Association Studies | Leukemia, Myeloid, Acute - pathology | Lymphatic System | Survival Rate | Haploinsufficiency | Leukemia, Myeloid, Acute - mortality | Adolescent | Myelodysplastic Syndromes - mortality | Immunologic Deficiency Syndromes - genetics | Aged | Myelodysplastic Syndromes - genetics | Myelodysplastic Syndromes - pathology | Leukemia, Myeloid, Acute - genetics | Index Medicus | Abridged Index Medicus | Plenary Paper
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Science (American Association for the Advancement of Science), ISSN 0036-8075, 11/2013, Volume 342, Issue 6160, pp. 866 - 871
T lymphocytes | Respiratory tract infections | Medical research | Immunology | REPORTS | Antibodies | Infections | Pelvic inflammatory disease | Children | Grants | Genetic mutation | Respiratory Tract Infections/genetics | Genetic Predisposition to Disease | Class I Phosphatidylinositol 3-Kinases | Phosphatidylinositol Phosphates/metabolism | Pedigree | Humans | Lymphocytes/immunology | Mutation | Proto-Oncogene Proteins c-akt/metabolism | Phosphatidylinositol 3-Kinases/genetics | Immunologic Deficiency Syndromes/genetics | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Immunologic Deficiency Syndromes - pathology | Phosphatidylinositol Phosphates - metabolism | Respiratory Tract Infections - genetics | Phosphatidylinositol 3-Kinases - genetics | Lymphocytes - immunology | Respiratory Tract Infections - immunology | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - immunology | Proto-Oncogene Proteins c-akt - metabolism | Respiratory Tract Infections - pathology | Index Medicus | Mutations | Genes | Disorders | Activation | Kinases | Sequencing | Patients | Diseases
Journal Article
Allergologia et immunopathologia, ISSN 0301-0546, 2005, Volume 33, Issue 4, pp. 179 - 180
Medicine | Immunologic Tests | Laboratories, Hospital | Models, Immunological | Specialization | Clinical Laboratory Techniques | Humans | Cooperative Behavior | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Spain | Index Medicus
Journal Article
Clinical infectious diseases, ISSN 1058-4838, 2017, Volume 64, Issue 1, pp. 83 - 86
Spleen | Granuloma | Rubella | Skin | Vaccine | Infectious Diseases | Immunology | Life Sciences & Biomedicine | Microbiology | Science & Technology | Immunohistochemistry | Rubella Vaccine - genetics | Spleen - virology | Granulomatous Disease, Chronic - diagnosis | Immunologic Deficiency Syndromes - complications | Humans | Male | Granulomatous Disease, Chronic - etiology | Reverse Transcriptase Polymerase Chain Reaction | Homeodomain Proteins - genetics | Rubella Vaccine - adverse effects | Biopsy | Immunologic Deficiency Syndromes - genetics | Female | Mutation | Immunologic Deficiency Syndromes - diagnosis | Spleen - pathology | Child | Skin - virology | Skin - pathology | Capsid Proteins - genetics | Rubella vaccines | Chronic granulomatous disease | Care and treatment | Usage | Children | Health aspects | Skin diseases | Viruses | Vaccines | Medical immunity | Children & youth | Chronic illnesses | Index Medicus | Immunologic Deficiency Syndromes/diagnosis | Skin/pathology | Spleen/pathology | Life Sciences | Immunologic Deficiency Syndromes/complications | Skin/virology | Spleen/virology | Virology | Rubella Vaccine/adverse effects | Rubella Vaccine/genetics | Human health and pathology | Microbiology and Parasitology | Granulomatous Disease, Chronic/etiology | Infectious diseases | Granulomatous Disease, Chronic/diagnosis | Homeodomain Proteins/genetics | Capsid Proteins/genetics | Immunologic Deficiency Syndromes/genetics
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Allergy and Immunology | Recurrence | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Class I Phosphatidylinositol 3-Kinases/antagonists & inhibitors | Young Adult | Immunoglobulins, Intravenous/therapeutic use | Enzyme Inhibitors/therapeutic use | Lymphoproliferative Disorders/genetics | Adult | Female | Surveys and Questionnaires | Child | Respiratory Tract Infections/genetics | Mutation/genetics | Hematopoietic Stem Cell Transplantation | International Cooperation | Herpesviridae Infections/genetics | Animals | Adolescent | Survival Analysis | Mice | Immunologic Deficiency Syndromes/genetics | Cohort Studies | Activated phosphoinositide 3-kinase δ syndrome | hematopoietic stem cell transplantation | phosphoinositide 3-kinase δ | immunodeficiency | phosphoinositide 3-kinase inhibitor | PIK3CD gene | bronchiectasis | p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Herpesviridae Infections - genetics | Immunologic Deficiency Syndromes - therapy | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Index Medicus | Abridged Index Medicus | Immune Deficiencies, Infection, and Systemic Immune Disorders | HSCT, Hematopoietic stem cell transplantation | BALF, Bronchoalveolar lavage fluid | CT, Computed tomography | APDS, Activated phosphoinositide-3 kinase δ syndrome | GOF, Gain of function | PI3K, Phosphoinositide 3-kinase | HSV, Herpes simplex virus | CMV, Cytomegalovirus | OR, Odds ratio | PPV, Pneumococcal polysaccharide vaccine | CNS, Central nervous system
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Blood, ISSN 0006-4971, 03/2016, Volume 127, Issue 11, pp. 1387 - 1397
Life Sciences & Biomedicine | Hematology | Science & Technology | Chromosomes, Human, Pair 8 - genetics | Deafness - genetics | Prevalence | Prognosis | Prospective Studies | Humans | Child, Preschool | Male | GATA2 Transcription Factor - deficiency | Young Adult | Clinical Trials, Phase III as Topic | DNA Mutational Analysis | Germ-Line Mutation | Female | Chromosomes, Human, Pair 1 - genetics | Child | GATA2 Transcription Factor - genetics | Genetic Predisposition to Disease | Kaplan-Meier Estimate | Myelodysplastic Syndromes - epidemiology | Myelodysplastic Syndromes - etiology | Phenotype | Adolescent | Age of Onset | Chromosome Aberrations | Immunologic Deficiency Syndromes - genetics | Selection Bias | Myelodysplastic Syndromes - genetics | Chromosomes, Human, Pair 7 - genetics | Myelodysplastic Syndromes - pathology | Index Medicus | Abridged Index Medicus
Journal Article
Blood, ISSN 0006-4971, 04/2017, Volume 129, Issue 16, pp. 2266 - 2279
Life Sciences & Biomedicine | Hematology | Science & Technology | Cell Proliferation | Humans | Middle Aged | Pancytopenia - immunology | Male | Killer Cells, Natural - pathology | Cognitive Dysfunction - immunology | Interferon Type I - pharmacology | Myeloid Cells - immunology | Tumor Suppressor Proteins - genetics | Killer Cells, Natural - immunology | Adult | Cognitive Dysfunction - genetics | Female | Myeloid Cells - drug effects | Cognitive Dysfunction - diagnosis | B-Lymphocytes - pathology | Cognitive Dysfunction - complications | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Child | Gene Expression | Tumor Suppressor Proteins - metabolism | Immunologic Deficiency Syndromes - complications | Pancytopenia - diagnosis | Immunophenotyping | Myelodysplastic Syndromes - complications | B-Lymphocytes - drug effects | Hematopoiesis - immunology | Myelodysplastic Syndromes - diagnosis | B-Lymphocytes - immunology | Pancytopenia - complications | Pedigree | Alleles | Immunologic Deficiency Syndromes - genetics | Heterozygote | Mosaicism | Killer Cells, Natural - drug effects | Myelodysplastic Syndromes - genetics | Mutation | Myeloid Cells - pathology | Chromosomes, Human, Pair 7 - chemistry | Pancytopenia - genetics | Myelodysplastic Syndromes - immunology | Index Medicus | Abridged Index Medicus | Myeloid Neoplasia | Clinical Medicine | Hematologi | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Journal Article
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 132, Issue 3, pp. 515 - 525
Allergy and Immunology | natural killer cell deficiency | primary immunodeficiency | Natural killer cells | innate immunity | cytotoxicity | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Immunologic Deficiency Syndromes - therapy | Disease Susceptibility | Virus Diseases - immunology | Humans | Immunologic Deficiency Syndromes - genetics | Killer Cells, Natural - immunology | Immunologic Deficiency Syndromes - immunology | Killer cells | Genetic disorders | Expert witness testimony | Disease | Viruses | Cytotoxicity | Ligands | Accreditation | Viral infections | Immune system | Cell adhesion & migration | Index Medicus | Abridged Index Medicus | NK cells | Primary Immunodeficiency | NK cell deficiency | Innate Immunity
Journal Article