Result 1 - 7 of total 7
Comprehensive Pediatric Hospital Medicine
| Keywords | covid19 |
|---|---|
| Publisher | PMC |
| Document type | Article ; Online |
| DOI | 10.1016/b978-032303004-5.50079-x |
| Database | COVID19 |
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Comprehensive Pediatric Hospital Medicine
| Keywords | covid19 |
|---|---|
| Publisher | Elsevier |
| Document type | Article ; Online |
| DOI | 10.1016/b978-032303004-5.50079-x |
| Database | COVID19 |
Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.
The Journal of allergy and clinical immunology
2007 Volume 120, Issue 4, Page(s) 950–952
| MeSH term(s) | Bone Marrow Transplantation ; Child, Preschool ; Follow-Up Studies ; Haplotypes ; Humans ; Infant, Newborn ; Severe Combined Immunodeficiency/immunology ; Severe Combined Immunodeficiency/therapy |
|---|---|
| Language | English |
| Publishing date | 2007-10 |
| Publishing country | United States |
| Document type | Case Reports ; Letter |
| ZDB-ID | 121011-7 |
| ISSN | 1085-8725 ; 1097-6825 ; 0091-6749 |
| ISSN (online) | 1085-8725 ; 1097-6825 |
| ISSN | 0091-6749 |
| DOI | 10.1016/j.jaci.2007.07.026 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Uh III Zs.92: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
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2013 Volume 131, Issue 2, Page(s) e629–34
Abstract: Folate and vitamin B(12) metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with immunodeficiency. Here we describe the occurrence of severe combined immunodeficiency (SCID) with ... ...
| Abstract | Folate and vitamin B(12) metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with immunodeficiency. Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities in which hydroxocobalamin and folate therapy provided partial immune reconstitution. Whole exome sequencing identified compound heterozygous mutations in the MTHFD1 gene, which encodes a trifunctional protein essential for processing of single-carbon folate derivatives. We now report the immunologic details of this novel genetic cause of SCID and the response to targeted metabolic supplementation therapies. This finding expands the known metabolic causes of SCID and presents an important diagnostic consideration given the positive impact of therapy. |
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| MeSH term(s) | 3-Hydroxyacyl CoA Dehydrogenases/deficiency ; 3-Hydroxyacyl CoA Dehydrogenases/genetics ; Anemia, Megaloblastic/diagnosis ; Anemia, Megaloblastic/drug therapy ; Anemia, Megaloblastic/genetics ; Bone Marrow Examination ; Cardiomyopathies/diagnosis ; Cardiomyopathies/drug therapy ; Cardiomyopathies/genetics ; Combined Modality Therapy ; DNA Mutational Analysis ; Drug Combinations ; Drug Therapy, Combination ; Exome/genetics ; Female ; Genetic Carrier Screening ; Humans ; Hydroxocobalamin/therapeutic use ; Immunization, Passive ; Infant ; Infant, Newborn ; Leukopenia/diagnosis ; Leukopenia/drug therapy ; Leukopenia/genetics ; Lipid Metabolism, Inborn Errors/diagnosis ; Lipid Metabolism, Inborn Errors/drug therapy ; Lipid Metabolism, Inborn Errors/genetics ; Methylenetetrahydrofolate Dehydrogenase (NADP)/genetics ; Minor Histocompatibility Antigens ; Mitochondrial Myopathies ; Mitochondrial Trifunctional Protein/deficiency ; Nervous System Diseases ; Opportunistic Infections/diagnosis ; Opportunistic Infections/drug therapy ; Opportunistic Infections/genetics ; Peripheral Nervous System Diseases/diagnosis ; Peripheral Nervous System Diseases/drug therapy ; Peripheral Nervous System Diseases/genetics ; Pneumonia, Pneumocystis/diagnosis ; Pneumonia, Pneumocystis/drug therapy ; Pneumonia, Pneumocystis/genetics ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/drug therapy ; Retinitis Pigmentosa/genetics ; Rhabdomyolysis ; Sequence Analysis, DNA ; Severe Combined Immunodeficiency/diagnosis ; Severe Combined Immunodeficiency/drug therapy ; Severe Combined Immunodeficiency/genetics ; Sulfadoxine/therapeutic use ; Trimethoprim/therapeutic use ; Vitamin B 12/therapeutic use |
| Chemical Substances | Drug Combinations ; Minor Histocompatibility Antigens ; trimethoprim, sulfadoxine drug combination (39295-60-8) ; Sulfadoxine (88463U4SM5) ; Trimethoprim (AN164J8Y0X) ; 3-Hydroxyacyl CoA Dehydrogenases (EC 1.1.1.-) ; MTHFD1 protein, human (EC 1.5.1.5) ; Methylenetetrahydrofolate Dehydrogenase (NADP) (EC 1.5.1.5) ; Mitochondrial Trifunctional Protein (EC 2.3.1.16) ; Vitamin B 12 (P6YC3EG204) ; Hydroxocobalamin (Q40X8H422O) |
| Language | English |
| Publishing date | 2013-02 |
| Publishing country | United States |
| Document type | Case Reports ; Journal Article |
| ZDB-ID | 207677-9 |
| ISSN | 1098-4275 ; 0031-4005 |
| ISSN (online) | 1098-4275 |
| ISSN | 0031-4005 |
| DOI | 10.1542/peds.2012-0899 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Um IV Zs.131: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
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| Zs.MO 357: Show issues |
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2009 Volume 85, Issue 6, Page(s) 1036–1043
Abstract: Among previously healthy children with severe influenza, the mechanisms leading to increased pathology are not understood. We hypothesized that children with severe influenza would have high levels of circulating cytokines. To examine this, we recruited ... ...
| Abstract | Among previously healthy children with severe influenza, the mechanisms leading to increased pathology are not understood. We hypothesized that children with severe influenza would have high levels of circulating cytokines. To examine this, we recruited patients with severe influenza and examined plasma cytokine levels as well as the ability of peripheral blood cells to respond to stimuli. Ten patients with severe influenza were enrolled during the 2005-2007 influenza seasons. We evaluated plasma cytokine levels, circulating NK cells, and responses to TLR ligands during the illness. We compared these patients with five patients with moderate influenza, six patients with respiratory syncytial virus (RSV), and 24 noninfected controls. Patients with influenza showed depressed responses to TLR ligands when compared with RSV patients and healthy controls (P<0.05). These normalized when retested during a convalescent phase. Plasma levels of IL-6, IL-12, and IFN- were elevated in influenza patients compared with controls (P<0.05). A compromised ability to produce TNF- was reproduced by in vitro infection, and the magnitude of the effect correlated with the multiplicity of infection and induction of IFN regulatory factor 4 expression. Aberrant, systemic, innate responses to TLR ligands during influenza infection may be a consequence of specific viral attributes such as a high inoculum or rapid replication and may underlie the known susceptibility of influenza-infected patients to secondary bacterial infections. |
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| MeSH term(s) | Blotting, Western ; Child, Preschool ; Cytokines/blood ; Female ; Flow Cytometry ; Gene Expression Regulation ; Humans ; Immune System Diseases/complications ; Immune System Diseases/immunology ; Immune System Diseases/physiopathology ; Infant ; Influenza, Human/complications ; Influenza, Human/genetics ; Influenza, Human/immunology ; Influenza, Human/physiopathology ; Interferon Regulatory Factors/metabolism ; Killer Cells, Natural/immunology ; Killer Cells, Natural/virology ; Leukocytes, Mononuclear/virology ; Male ; Natural Cytotoxicity Triggering Receptor 1/immunology ; Toll-Like Receptors/metabolism |
| Chemical Substances | Cytokines ; Interferon Regulatory Factors ; NCR1 protein, human ; Natural Cytotoxicity Triggering Receptor 1 ; Toll-Like Receptors ; interferon regulatory factor-4 |
| Language | English |
| Publishing date | 2009-03-10 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 605722-6 |
| ISSN | 1938-3673 ; 0741-5400 |
| ISSN (online) | 1938-3673 |
| ISSN | 0741-5400 |
| DOI | 10.1189/jlb.1108710 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 603: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
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2007 Volume 10, Issue 2, Page(s) 98–105
Abstract: IPEX syndrome is a rare, inherited condition characterized by immune dysfunction, polyendocrinopathy, enteropathy, and X-linked recessive inheritance. Patients typically present in infancy with severe diarrhea and failure to thrive. Most children die by ... ...
| Abstract | IPEX syndrome is a rare, inherited condition characterized by immune dysfunction, polyendocrinopathy, enteropathy, and X-linked recessive inheritance. Patients typically present in infancy with severe diarrhea and failure to thrive. Most children die by 1 year of age without therapy. The diagnosis is established by genetic analysis, which often takes several weeks to complete and can sometimes delay crucial immunosuppressive treatment. We attempted to develop a screening tool that allows rapid identification of patients with IPEX syndrome using immunocytochemical staining of FOXP3+ cells in bowel biopsies. We found that 2 patients with classic IPEX syndrome due to protein-truncating mutations in FOXP3 had markedly decreased staining of FOXP3+ T cells in the lamina propria and lymphoid aggregates. One patient with a mild, late-onset presentation and a missense mutation in FOXP3 had intact staining of FOXP3+ cells. This screening test provides a valuable tool for diagnosing IPEX syndrome in extremely ill patients who may not tolerate a delay in therapeutic intervention. |
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| MeSH term(s) | Case-Control Studies ; Child ; Child, Preschool ; Endoscopy ; Fatal Outcome ; Follow-Up Studies ; Forkhead Transcription Factors/genetics ; Forkhead Transcription Factors/metabolism ; Frameshift Mutation ; Genetic Diseases, X-Linked/diagnosis ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/immunology ; Genetic Diseases, X-Linked/pathology ; Genetic Diseases, X-Linked/surgery ; Genetic Diseases, X-Linked/therapy ; Genetic Testing ; Humans ; Immunohistochemistry ; Immunosuppressive Agents/therapeutic use ; Intestinal Mucosa/metabolism ; Intestinal Mucosa/pathology ; Intestine, Large/surgery ; Male ; Mucous Membrane/metabolism ; Mucous Membrane/pathology ; Mutation, Missense ; Polyendocrinopathies, Autoimmune/diagnosis ; Polyendocrinopathies, Autoimmune/genetics ; Polyendocrinopathies, Autoimmune/immunology ; Polyendocrinopathies, Autoimmune/pathology ; Polyendocrinopathies, Autoimmune/surgery ; Polyendocrinopathies, Autoimmune/therapy ; Protein-Losing Enteropathies/diagnosis ; Protein-Losing Enteropathies/genetics ; Protein-Losing Enteropathies/immunology ; Protein-Losing Enteropathies/pathology ; Protein-Losing Enteropathies/surgery ; Protein-Losing Enteropathies/therapy ; Retrospective Studies ; Sirolimus/therapeutic use ; Syndrome ; T-Lymphocytes/metabolism ; Time Factors ; Treatment Outcome |
| Chemical Substances | FOXP3 protein, human ; Forkhead Transcription Factors ; Immunosuppressive Agents ; Sirolimus (W36ZG6FT64) |
| Language | English |
| Publishing date | 2007-03 |
| Publishing country | United States |
| Document type | Case Reports ; Journal Article |
| ZDB-ID | 1463498-3 |
| ISSN | 1615-5742 ; 1093-5266 |
| ISSN (online) | 1615-5742 |
| ISSN | 1093-5266 |
| DOI | 10.2350/06-07-0130.1 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 5063: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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Clinical immunology (Orlando, Fla.)
2002 Volume 105, Issue 3, Page(s) 273–278
Abstract: Chronic granulomatous disease is a neutrophil disorder in which phagocytic cells fail to produce a respiratory burst. Five genetic types of chronic granulomatous disease have been described and in each case the clinical manifestations relate to the ... ...
| Abstract | Chronic granulomatous disease is a neutrophil disorder in which phagocytic cells fail to produce a respiratory burst. Five genetic types of chronic granulomatous disease have been described and in each case the clinical manifestations relate to the inability to effectively kill catalase-positive organisms. It is classically described as a pure disorder of intracellular killing, with preservation of other aspects of phagocytic function such as migration and phagocytosis and normal function of nonmyeloid cells. This article describes a heretofore unrecognized feature of chronic granulomatous disease. Fifty-three patients with chronic granulomatous disease and 42 age-matched controls were studied by flow cytometry. Total T cell numbers and CD4 and CD8 T cell numbers were compared between patients and controls. Patients with chronic granulomatous disease had diminished T cell numbers compared to controls after 3 years of age. The difference increased with age. It is not known whether diminished T cell numbers influence the susceptibility to infections in these patients, but T cell effects could represent a significant cofactor for infection. |
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| MeSH term(s) | Acquired Immunodeficiency Syndrome ; Adolescent ; Adult ; Age Factors ; Child ; Child, Preschool ; Flow Cytometry ; Granulomatous Disease, Chronic/genetics ; Granulomatous Disease, Chronic/immunology ; Humans ; Infant ; Leukocyte Count ; Retrospective Studies ; T-Lymphocytes/immunology |
| Language | English |
| Publishing date | 2002-12-23 |
| Publishing country | United States |
| Document type | Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 1459903-x |
| ISSN | 1521-7035 ; 1521-6616 |
| ISSN (online) | 1521-7035 |
| ISSN | 1521-6616 |
| DOI | 10.1006/clim.2002.5291 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 880: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
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