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Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1186 - 1205.e78
Journal Article
Blood, ISSN 0006-4971, 04/2017, Volume 129, Issue 16, pp. 2266 - 2279
Several monogenic causes of familial myelodysplastic syndrome (MDS) have recently been identified. We studied 2 families with cytopenia, predisposition to MDS... 
FAMILIAL TUMORAL CALCINOSIS | GERM-LINE | FANCONI-ANEMIA REGISTRY | HEMATOPOIETIC STEM-CELLS | IN-VIVO | SPONTANEOUS REMISSION | ACUTE MYELOID-LEUKEMIA | RETROSPECTIVE ANALYSIS | HEMATOLOGY | DETECTABLE CLONAL MOSAICISM | MYELODYSPLASTIC SYNDROMES | 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 | Medical and Health Sciences | Hematology | Hematologi | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 131, Issue 3, pp. 825 - 830.e9
Journal Article
Haematologica, ISSN 0390-6078, 07/2015, Volume 100, Issue 7, pp. 978 - 988
Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify... 
DEFECTS | CHRONIC GRANULOMATOUS-DISEASE | MACROPHAGE ACTIVATION SYNDROME | BONE-MARROW | PERFORIN | HEMATOLOGY | CYTOTOXICITY | DEFICIENCY | TRANSPLANTATION | MANIFESTATIONS | DELETION | Lymphohistiocytosis, Hemophagocytic - pathology | Humans | Child, Preschool | Lymphoproliferative Disorders - complications | Male | Virus Diseases - complications | Virus Diseases - drug therapy | T-Lymphocytes - drug effects | Opportunistic Infections - immunology | Immunologic Deficiency Syndromes - immunology | Child | Infant, Newborn | Lymphohistiocytosis, Hemophagocytic - immunology | Opportunistic Infections - complications | Leishmaniasis - immunology | Virus Diseases - immunology | Bacterial Infections - drug therapy | Lymphohistiocytosis, Hemophagocytic - drug therapy | Europe | Lymphohistiocytosis, Hemophagocytic - diagnosis | Terminology as Topic | Leishmaniasis - drug therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Mycoses - drug therapy | T-Lymphocytes - immunology | Immunologic Deficiency Syndromes - drug therapy | Killer Cells, Natural - drug effects | Mycoses - complications | Mycoses - immunology | Infant | Killer Cells, Natural - pathology | Lymphoproliferative Disorders - immunology | Bacterial Infections - complications | Bacterial Infections - immunology | Killer Cells, Natural - immunology | Adult | Female | Registries | Steroids - therapeutic use | T-Lymphocytes - pathology | Immunologic Deficiency Syndromes - diagnosis | Diagnosis, Differential | Immunologic Deficiency Syndromes - complications | Lymphoproliferative Disorders - diagnosis | Opportunistic Infections - drug therapy | Lymphoproliferative Disorders - drug therapy | Leishmaniasis - complications | Immunologic Factors - therapeutic use | Index Medicus
Journal Article
Annals of Allergy, Asthma & Immunology, ISSN 1081-1206, 2005, Volume 94, Issue 5, pp. S1 - S63
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2012, Volume 160, Issue 6, pp. 1055 - 1057
We describe a Turkish patient with tyrosine kinase 2 deficiency who suffered from disseminated Bacille Calmette-Guerin infection, neurobrucellosis, and... 
Pediatrics | Autosomal dominant | Autosomal recessive | IFN-γ | Tyk2 | Interleukin | BCG | Tyrosine kinase 2 | Bacille Calmette-Guerin | Hyper IgE syndrome | HIES | Interferon gamma | IMMUNITY | PEDIATRICS | MUTATIONS | DOCK8 |