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
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
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 136, Issue 4, pp. 993 - 1006.e1
Background Follicular helper T (TFH ) cells underpin T cell–dependent humoral immunity and the success of most vaccines. TFH cells also contribute to human...
Allergy and Immunology | cytokine signaling | humoral immunity | Follicular helper T cells | primary immunodeficiencies | IFN-GAMMA | AGAMMAGLOBULINEMIA | PHENOTYPE | IL-21 RECEPTOR | IMMUNOLOGY | TRANSCRIPTION FACTOR STAT3 | DEFICIENCY | B-CELLS | COMMITMENT | ALLERGY | ANTIBODY-RESPONSES | T-Lymphocyte Subsets - immunology | Cell Proliferation - genetics | Lymphocyte Activation | Humans | Immunity, Humoral - genetics | Cells, Cultured | Signal Transduction - genetics | I-kappa B Kinase - genetics | Interferon-gamma - metabolism | Mutation - genetics | STAT1 Transcription Factor - genetics | Cell Differentiation - genetics | Signal Transduction - immunology | Protein-Tyrosine Kinases - genetics | B-Lymphocytes - immunology | CD40 Ligand - genetics | T-Lymphocytes, Helper-Inducer - immunology | Inducible T-Cell Co-Stimulator Protein - genetics | Immunologic Deficiency Syndromes - genetics | Immunologic Memory | Interferon-gamma - genetics | Immunologic Deficiency Syndromes - immunology | Receptors, Cytokine - genetics | STAT3 Transcription Factor - genetics | Autoimmunity | Care and treatment | Genetic aspects | Immunodeficiency | Antigens | Immunoglobulins | Cytokines | Lymphocytes | Human immunodeficiency virus--HIV | T cell receptors | Infections | Gene expression
Allergy and Immunology | cytokine signaling | humoral immunity | Follicular helper T cells | primary immunodeficiencies | IFN-GAMMA | AGAMMAGLOBULINEMIA | PHENOTYPE | IL-21 RECEPTOR | IMMUNOLOGY | TRANSCRIPTION FACTOR STAT3 | DEFICIENCY | B-CELLS | COMMITMENT | ALLERGY | ANTIBODY-RESPONSES | T-Lymphocyte Subsets - immunology | Cell Proliferation - genetics | Lymphocyte Activation | Humans | Immunity, Humoral - genetics | Cells, Cultured | Signal Transduction - genetics | I-kappa B Kinase - genetics | Interferon-gamma - metabolism | Mutation - genetics | STAT1 Transcription Factor - genetics | Cell Differentiation - genetics | Signal Transduction - immunology | Protein-Tyrosine Kinases - genetics | B-Lymphocytes - immunology | CD40 Ligand - genetics | T-Lymphocytes, Helper-Inducer - immunology | Inducible T-Cell Co-Stimulator Protein - genetics | Immunologic Deficiency Syndromes - genetics | Immunologic Memory | Interferon-gamma - genetics | Immunologic Deficiency Syndromes - immunology | Receptors, Cytokine - genetics | STAT3 Transcription Factor - genetics | Autoimmunity | Care and treatment | Genetic aspects | Immunodeficiency | Antigens | Immunoglobulins | Cytokines | Lymphocytes | Human immunodeficiency virus--HIV | T cell receptors | Infections | Gene expression
Journal Article
Bone Marrow Transplantation, ISSN 0268-3369, 11/2014, Volume 49, Issue 11, pp. 1389 - 1392
The incidence and outcome of moderate-to-severe veno-occlusive (VOD) disease was analyzed in 271 consecutive patients with hematological malignancies who...
ONCOLOGY | BONE-MARROW-TRANSPLANTATION | COHORT | IMMUNOLOGY | HEMATOLOGY | FAILURE | TRANSPLANTATION | Hepatic Veno-Occlusive Disease - etiology | Myeloablative Agonists - adverse effects | Humans | Middle Aged | Risk Factors | Vidarabine - adverse effects | Male | Vidarabine - analogs & derivatives | Hepatic Veno-Occlusive Disease - epidemiology | Antilymphocyte Serum - administration & dosage | Incidence | Allografts | Adolescent | Myeloablative Agonists - administration & dosage | Adult | Female | Immunosuppressive Agents - adverse effects | Transplantation Conditioning - adverse effects | Aged | Retrospective Studies | Vidarabine - administration & dosage | Immunosuppressive Agents - administration & dosage | Stem Cell Transplantation - adverse effects | Care and treatment | Usage | Liver diseases | Patient outcomes | Stem cells | Transplantation | Risk factors
ONCOLOGY | BONE-MARROW-TRANSPLANTATION | COHORT | IMMUNOLOGY | HEMATOLOGY | FAILURE | TRANSPLANTATION | Hepatic Veno-Occlusive Disease - etiology | Myeloablative Agonists - adverse effects | Humans | Middle Aged | Risk Factors | Vidarabine - adverse effects | Male | Vidarabine - analogs & derivatives | Hepatic Veno-Occlusive Disease - epidemiology | Antilymphocyte Serum - administration & dosage | Incidence | Allografts | Adolescent | Myeloablative Agonists - administration & dosage | Adult | Female | Immunosuppressive Agents - adverse effects | Transplantation Conditioning - adverse effects | Aged | Retrospective Studies | Vidarabine - administration & dosage | Immunosuppressive Agents - administration & dosage | Stem Cell Transplantation - adverse effects | Care and treatment | Usage | Liver diseases | Patient outcomes | Stem cells | Transplantation | Risk factors
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 07/2016, Volume 213, Issue 8, pp. 1589 - 1608
Naive CD4(+) T cells differentiate into specific effector subsets-Th1, Th2, Th17, and T follicular helper (Tfh)-that provide immunity against pathogen...
HYPER-IGE SYNDROME | ESSENTIAL MODULATOR MUTATION | MEDICINE, RESEARCH & EXPERIMENTAL | FOLLICULAR-HELPER-CELLS | ECTODERMAL DYSPLASIA | IL-10 PRODUCTION | COMMON VARIABLE IMMUNODEFICIENCY | ICOS DEFICIENCY | BCL6 EXPRESSION | IMMUNOLOGY | ANTIBODY-RESPONSES | CHRONIC MUCOCUTANEOUS CANDIDIASIS | Humans | Male | Th2 Cells - immunology | STAT1 Transcription Factor - genetics | Th1 Cells - immunology | STAT1 Transcription Factor - immunology | Cell Differentiation - genetics | Cell Differentiation - immunology | Interleukin-10 - genetics | Th17 Cells - immunology | Female | Th17 Cells - cytology | Antigens, Differentiation - genetics | Th1 Cells - cytology | Mutation | STAT3 Transcription Factor - immunology | Interleukin-10 - immunology | STAT3 Transcription Factor - genetics | Antigens, Differentiation - immunology
HYPER-IGE SYNDROME | ESSENTIAL MODULATOR MUTATION | MEDICINE, RESEARCH & EXPERIMENTAL | FOLLICULAR-HELPER-CELLS | ECTODERMAL DYSPLASIA | IL-10 PRODUCTION | COMMON VARIABLE IMMUNODEFICIENCY | ICOS DEFICIENCY | BCL6 EXPRESSION | IMMUNOLOGY | ANTIBODY-RESPONSES | CHRONIC MUCOCUTANEOUS CANDIDIASIS | Humans | Male | Th2 Cells - immunology | STAT1 Transcription Factor - genetics | Th1 Cells - immunology | STAT1 Transcription Factor - immunology | Cell Differentiation - genetics | Cell Differentiation - immunology | Interleukin-10 - genetics | Th17 Cells - immunology | Female | Th17 Cells - cytology | Antigens, Differentiation - genetics | Th1 Cells - cytology | Mutation | STAT3 Transcription Factor - immunology | Interleukin-10 - immunology | STAT3 Transcription Factor - genetics | Antigens, Differentiation - immunology
Journal Article
Journal of Immunology, ISSN 0022-1767, 10/2017, Volume 199, Issue 8, pp. 2745 - 2757
The control of lymphoid homeostasis is the result of a very fine balance between lymphocyte production, proliferation, and apoptosis. In this study, we focused...
MIGRATION | RESPONSES | CD74 | MIF SIGNAL-TRANSDUCTION | IMPAIRED HUMORAL IMMUNITY | FAMILY RECEPTORS | CYTOKINE | INVARIANT CHAIN | IMMUNOLOGY | LINKED LYMPHOPROLIFERATIVE-DISEASE | GENE-PRODUCT | B-Lymphocyte Subsets - physiology | RNA, Small Interfering - genetics | T-Lymphocytes - physiology | Cell Proliferation | Cell Survival | Humans | Mice, Inbred C57BL | Cells, Cultured | B-Lymphocytes - physiology | Cell Communication | Homeostasis | Lymphoproliferative Disorders - immunology | Signaling Lymphocytic Activation Molecule Associated Protein - metabolism | Signaling Lymphocytic Activation Molecule Associated Protein - genetics | Antibodies, Blocking - administration & dosage | Mice, Knockout | Animals | Cell Differentiation | Mice | Blood Cells - physiology | Signaling Lymphocytic Activation Molecule Family - genetics | Signaling Lymphocytic Activation Molecule Family - metabolism | Adaptor proteins | Lymphocyte receptors | Cell survival | Leukocyte migration | Lymphocytes T | Adaptors | CD150 antigen | SAP protein | Survival | Signaling | Cell activation | Lymphocytes B | Lymphocytes | Migration inhibitory factor | Cell migration | Apoptosis
MIGRATION | RESPONSES | CD74 | MIF SIGNAL-TRANSDUCTION | IMPAIRED HUMORAL IMMUNITY | FAMILY RECEPTORS | CYTOKINE | INVARIANT CHAIN | IMMUNOLOGY | LINKED LYMPHOPROLIFERATIVE-DISEASE | GENE-PRODUCT | B-Lymphocyte Subsets - physiology | RNA, Small Interfering - genetics | T-Lymphocytes - physiology | Cell Proliferation | Cell Survival | Humans | Mice, Inbred C57BL | Cells, Cultured | B-Lymphocytes - physiology | Cell Communication | Homeostasis | Lymphoproliferative Disorders - immunology | Signaling Lymphocytic Activation Molecule Associated Protein - metabolism | Signaling Lymphocytic Activation Molecule Associated Protein - genetics | Antibodies, Blocking - administration & dosage | Mice, Knockout | Animals | Cell Differentiation | Mice | Blood Cells - physiology | Signaling Lymphocytic Activation Molecule Family - genetics | Signaling Lymphocytic Activation Molecule Family - metabolism | Adaptor proteins | Lymphocyte receptors | Cell survival | Leukocyte migration | Lymphocytes T | Adaptors | CD150 antigen | SAP protein | Survival | Signaling | Cell activation | Lymphocytes B | Lymphocytes | Migration inhibitory factor | Cell migration | Apoptosis
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 2015, Volume 212, Issue 6, pp. 855 - 864
Unconventional T cells such as gamma delta T cells, natural killer T cells (NKT cells) and mucosal-associated invariant T cells (MAIT cells) are a major...
HYPER-IGE SYNDROME | MEDICINE, RESEARCH & EXPERIMENTAL | EFFECTOR FUNCTIONS | ROR-GAMMA-T | MAIT CELLS | RECEPTOR | DOMINANT | CLINICAL-FEATURES | MUTATIONS | DIFFERENTIATION | IMMUNOLOGY | DEFICIENCY | Tumor Necrosis Factor-alpha - metabolism | Cytokines - metabolism | Receptors, Antigen, T-Cell, gamma-delta - metabolism | Signal Transduction | Cell Separation | Humans | Receptors, Interleukin-21 - metabolism | Lymphocytes - cytology | Interferon-gamma - metabolism | Interleukins - metabolism | Receptors, Interleukin - metabolism | Interleukin-17 - metabolism | Killer Cells, Natural - cytology | Flow Cytometry | Interleukin-23 - metabolism | Receptors, Interleukin-12 - metabolism | T-Lymphocytes - cytology | Nuclear Receptor Subfamily 1, Group F, Member 3 - metabolism | Leukocytes, Mononuclear - cytology | Polymorphism, Single Nucleotide | Mutation | STAT3 Transcription Factor - metabolism | Brief Definitive Report
HYPER-IGE SYNDROME | MEDICINE, RESEARCH & EXPERIMENTAL | EFFECTOR FUNCTIONS | ROR-GAMMA-T | MAIT CELLS | RECEPTOR | DOMINANT | CLINICAL-FEATURES | MUTATIONS | DIFFERENTIATION | IMMUNOLOGY | DEFICIENCY | Tumor Necrosis Factor-alpha - metabolism | Cytokines - metabolism | Receptors, Antigen, T-Cell, gamma-delta - metabolism | Signal Transduction | Cell Separation | Humans | Receptors, Interleukin-21 - metabolism | Lymphocytes - cytology | Interferon-gamma - metabolism | Interleukins - metabolism | Receptors, Interleukin - metabolism | Interleukin-17 - metabolism | Killer Cells, Natural - cytology | Flow Cytometry | Interleukin-23 - metabolism | Receptors, Interleukin-12 - metabolism | T-Lymphocytes - cytology | Nuclear Receptor Subfamily 1, Group F, Member 3 - metabolism | Leukocytes, Mononuclear - cytology | Polymorphism, Single Nucleotide | Mutation | STAT3 Transcription Factor - metabolism | Brief Definitive Report
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2015, Volume 11, Issue 6, p. e1005262
Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose...
GENOMIC LANDSCAPE | GENETIC-BASIS | ANKRD26 | ACUTE MYELOGENOUS LEUKEMIA | GENETICS & HEREDITY | DEFINES | FAMILIAL THROMBOCYTOPENIA | RUNX1 | Amino Acid Sequence | Repressor Proteins - chemistry | Proto-Oncogene Proteins c-ets - chemistry | Proto-Oncogene Proteins c-ets - genetics | Humans | Molecular Sequence Data | Repressor Proteins - genetics | Mutation, Missense | Case-Control Studies | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Thrombocytopenia - genetics | Germ-Line Mutation | Proto-Oncogene Proteins c-ets - metabolism | HeLa Cells | Repressor Proteins - metabolism | Proteins | Transcription factors | Mutation | Leukemia | Genes | Cancer
GENOMIC LANDSCAPE | GENETIC-BASIS | ANKRD26 | ACUTE MYELOGENOUS LEUKEMIA | GENETICS & HEREDITY | DEFINES | FAMILIAL THROMBOCYTOPENIA | RUNX1 | Amino Acid Sequence | Repressor Proteins - chemistry | Proto-Oncogene Proteins c-ets - chemistry | Proto-Oncogene Proteins c-ets - genetics | Humans | Molecular Sequence Data | Repressor Proteins - genetics | Mutation, Missense | Case-Control Studies | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Thrombocytopenia - genetics | Germ-Line Mutation | Proto-Oncogene Proteins c-ets - metabolism | HeLa Cells | Repressor Proteins - metabolism | Proteins | Transcription factors | Mutation | Leukemia | Genes | Cancer
Journal Article
Haematologica, ISSN 0390-6078, 08/2010, Volume 95, Issue 8, pp. 1300 - 1307
Background Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer...
Fanconi anemia | Stem cell transplantation | Inherited bone marrow failure syndromes | RISKS | stem cell transplantation | SEVERE CONGENITAL NEUTROPENIA | DYSKERATOSIS-CONGENITA | DIAMOND-BLACKFAN ANEMIA | HEMATOLOGY | FANCONI-ANEMIA | CANCER | inherited bone marrow failure syndromes | PATHOPHYSIOLOGY | Bone Marrow Diseases - epidemiology | Humans | Kaplan-Meier Estimate | Child, Preschool | Infant | Male | Hematologic Neoplasms - epidemiology | Bone Marrow Diseases - genetics | Syndrome | Incidence | Young Adult | Israel - epidemiology | Registries - statistics & numerical data | Adolescent | Adult | Female | Surveys and Questionnaires | Hematologic Neoplasms - genetics | Child | Infant, Newborn | Original
Fanconi anemia | Stem cell transplantation | Inherited bone marrow failure syndromes | RISKS | stem cell transplantation | SEVERE CONGENITAL NEUTROPENIA | DYSKERATOSIS-CONGENITA | DIAMOND-BLACKFAN ANEMIA | HEMATOLOGY | FANCONI-ANEMIA | CANCER | inherited bone marrow failure syndromes | PATHOPHYSIOLOGY | Bone Marrow Diseases - epidemiology | Humans | Kaplan-Meier Estimate | Child, Preschool | Infant | Male | Hematologic Neoplasms - epidemiology | Bone Marrow Diseases - genetics | Syndrome | Incidence | Young Adult | Israel - epidemiology | Registries - statistics & numerical data | Adolescent | Adult | Female | Surveys and Questionnaires | Hematologic Neoplasms - genetics | Child | Infant, Newborn | Original
Journal Article
PEDIATRIC BLOOD & CANCER, ISSN 1545-5009, 04/2019, Volume 66, Issue 4
Journal Article
Annals of Internal Medicine, ISSN 0003-4819, 01/2018, Volume 168, Issue 1, pp. 81 - 82
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
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
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Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A
Leukemia, ISSN 0887-6924, 2014, Volume 28, Issue 5, pp. 1136 - 1138
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Genetic Predisposition to Disease | Pedigree | Humans | Female | Male | Polymorphism, Single Nucleotide | Transcription factors | Genetic aspects | Heredity | Acute lymphocytic leukemia | Single nucleotide polymorphisms | Health aspects | Risk factors
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How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45
Pediatric Blood & Cancer, ISSN 1545-5009, 01/2019, Volume 66, Issue 1, pp. e27473 - n/a
Mutations in the VPS45 gene lead to a severe primary immune deficiency characterized by severe congenital neutropenia and primary myelofibrosis, leading to...
infection | myelofibrosis | severe combined neutropenia | bone marrow transplantation | ONCOLOGY | TRAFFICKING | PEDIATRICS | HEMATOLOGY | Bone marrow | Genetic aspects | Transplantation | Genetic disorders | Neutropenia
infection | myelofibrosis | severe combined neutropenia | bone marrow transplantation | ONCOLOGY | TRAFFICKING | PEDIATRICS | HEMATOLOGY | Bone marrow | Genetic aspects | Transplantation | Genetic disorders | Neutropenia
Journal Article