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Article ; Online: STAT6 joins the gain-of-function club.

Chen, Karin / Ochs, Hans D / Allenspach, Eric J

The Journal of allergy and clinical immunology

2023 Volume 152, Issue 1, Page(s) 53–55

MeSH term(s)	Humans ; Gain of Function Mutation ; Asthma ; Dermatitis, Atopic ; STAT6 Transcription Factor/genetics
Chemical Substances	STAT6 Transcription Factor ; STAT6 protein, human
Language	English
Publishing date	2023-05-14
Publishing country	United States
Document type	Editorial ; Comment
ZDB-ID	121011-7
ISSN	1097-6825 ; 1085-8725 ; 0091-6749
ISSN (online)	1097-6825 ; 1085-8725
ISSN	0091-6749
DOI	10.1016/j.jaci.2023.05.003
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Article ; Online: Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings.

Cruz, Patricia Dela / Rylaarsdam, Stacey / Torgerson, Troy R / Hagin, David / Allenspach, Eric J

Journal of clinical immunology

2023 Volume 43, Issue 8, Page(s) 1747–1750

MeSH term(s)	Humans ; Siblings ; Interleukin Receptor Common gamma Subunit
Chemical Substances	IL2RG protein, human ; Interleukin Receptor Common gamma Subunit
Language	English
Publishing date	2023-07-22
Publishing country	Netherlands
Document type	Letter
ZDB-ID	779361-3
ISSN	1573-2592 ; 0271-9142
ISSN (online)	1573-2592
ISSN	0271-9142
DOI	10.1007/s10875-023-01557-w
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Article ; Online: Evaluating the prevalence of inborn errors of immunity in adults with chronic immune thrombocytopenia or Evans syndrome.

Jiang, Debbie / Rosenlind, Kira / Baxter, Sarah / Gernsheimer, Terry / Gulsuner, Suleyman / Allenspach, Eric J / Keel, Siobán B

Blood advances

2023 Volume 7, Issue 23, Page(s) 7202–7208

Abstract: Inborn errors of immunity (IEIs) are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Autoimmune cytopenias, such as immune thrombocytopenia (ITP) and Evans syndrome (a combination of ITP and autoimmune ... ...

Abstract	Inborn errors of immunity (IEIs) are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Autoimmune cytopenias, such as immune thrombocytopenia (ITP) and Evans syndrome (a combination of ITP and autoimmune hemolytic anemia), are increasingly recognized phenotypes of IEI. Although recent findings suggest that IEIs may commonly underlie pediatric ITP and Evans syndrome, its prevalence in adult patients with these disorders remains undefined. This study sought to estimate the prevalence of underlying IEIs among adults with persistent or chronic ITP or Evans syndrome using a next-generation sequencing panel encompassing >370 genes implicated in IEIs. Forty-four subjects were enrolled from an outpatient adult hematology clinic at a tertiary referral center in the United States, with a median age of 49 years (range, 20-83). Fourteen subjects (31.8%) had secondary ITP, including 8 (18.2%) with Evans syndrome. No cases of IEI were identified despite a high representation of subjects with a personal history of autoimmunity (45.5%) and early onset of disease (median age at diagnosis of 40 years [range, 2-77]), including 20.5% who were initially diagnosed as children. Eight subjects (18.2%) were found to be carriers of pathogenic IEI variants, which, in their heterozygous state, are not disease-causing. One case of TUBB1-related congenital thrombocytopenia was identified. Although systematic screening for IEI has been proposed for pediatric patients with Evans syndrome, findings from this real-world study suggest that inclusion of genetic testing for IEI in the routine work-up of adults with ITP and Evans syndrome has a low diagnostic yield.
MeSH term(s)	Humans ; Adult ; Child ; Young Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Child, Preschool ; Adolescent ; Anemia, Hemolytic, Autoimmune/epidemiology ; Anemia, Hemolytic, Autoimmune/genetics ; Anemia, Hemolytic, Autoimmune/complications ; Purpura, Thrombocytopenic, Idiopathic/epidemiology ; Purpura, Thrombocytopenic, Idiopathic/genetics ; Purpura, Thrombocytopenic, Idiopathic/complications ; Autoimmunity ; Prevalence ; Thrombocytopenia/epidemiology ; Thrombocytopenia/genetics ; Thrombocytopenia/complications
Language	English
Publishing date	2023-10-04
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2915908-8
ISSN	2473-9537 ; 2473-9529
ISSN (online)	2473-9537
ISSN	2473-9529
DOI	10.1182/bloodadvances.2023011042
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Article: The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.

Stock, Amanda J / Gonzalez-Paredes, Pierina / Previato de Almeida, Luciana / Kosanke, Stanley D / Chetlur, Srinivaas / Budde, Hannah / Wakenight, Paul / Zwingman, Theresa A / Rosen, Aaron B / Allenspach, Eric / Millen, Kathleen J / Buckner, Jane H / Rawlings, David J / Gorman, Jacquelyn A

bioRxiv : the preprint server for biology

2024

Abstract: Type 1 diabetes (T1D) is an autoimmune disease in which pancreatic islet β-cells are attacked by the immune system, resulting in insulin deficiency and hyperglycemia. One of the top non-synonymous single-nucleotide polymorphisms (SNP) associated with T1D ...

Abstract	Type 1 diabetes (T1D) is an autoimmune disease in which pancreatic islet β-cells are attacked by the immune system, resulting in insulin deficiency and hyperglycemia. One of the top non-synonymous single-nucleotide polymorphisms (SNP) associated with T1D is in the interferon-induced helicase C domain-containing protein 1 (
Language	English
Publishing date	2024-01-23
Publishing country	United States
Document type	Preprint
DOI	10.1101/2024.01.20.576482
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Article ; Online: The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.

Stock, Amanda J / Gonzalez Paredes, Pierina / de Almeida, Luciana Previato / Kosanke, Stanley D / Chetlur, Srinivaas / Budde, Hannah / Wakenight, Paul / Zwingman, Theresa A / Rosen, Aaron B I / Allenspach, Eric J / Millen, Kathleen J / Buckner, Jane H / Rawlings, David J / Gorman, Jacquelyn A

Frontiers in immunology

2024 Volume 15, Page(s) 1349601

Abstract	Type 1 diabetes (T1D) is an autoimmune disease in which pancreatic islet β-cells are attacked by the immune system, resulting in insulin deficiency and hyperglycemia. One of the top non-synonymous single-nucleotide polymorphisms (SNP) associated with T1D is in the interferon-induced helicase C domain-containing protein 1 (
MeSH term(s)	Female ; Animals ; Mice ; Interferon-Induced Helicase, IFIH1/genetics ; Diabetes Mellitus, Type 1 ; DEAD-box RNA Helicases/metabolism ; CD8-Positive T-Lymphocytes/metabolism ; Genetic Predisposition to Disease ; Mice, Inbred NOD ; Autoimmune Diseases/genetics ; Interferons/genetics
Chemical Substances	Interferon-Induced Helicase, IFIH1 (EC 3.6.4.13) ; DEAD-box RNA Helicases (EC 3.6.4.13) ; Interferons (9008-11-1)
Language	English
Publishing date	2024-02-29
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2024.1349601
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Article ; Online: Dysregulated IFN-γ signals promote autoimmunity in STAT1 gain-of-function syndrome.

Largent, Andrea D / Lambert, Katharina / Chiang, Kristy / Shumlak, Natali / Liggitt, Denny / Oukka, Mohammed / Torgerson, Troy R / Buckner, Jane H / Allenspach, Eric J / Rawlings, David J / Jackson, Shaun W

Science translational medicine

2023 Volume 15, Issue 703, Page(s) eade7028

Abstract: Heterozygous signal transducer and activator of transcription 1 ( ...

Abstract	Heterozygous signal transducer and activator of transcription 1 (
MeSH term(s)	Humans ; Child ; Mice ; Animals ; Autoimmunity/genetics ; Gain of Function Mutation ; Interferon-gamma/metabolism ; Syndrome ; Inflammation ; STAT1 Transcription Factor/genetics ; STAT1 Transcription Factor/metabolism
Chemical Substances	Interferon-gamma (82115-62-6) ; STAT1 Transcription Factor ; STAT1 protein, human
Language	English
Publishing date	2023-07-05
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2518854-9
ISSN	1946-6242 ; 1946-6234
ISSN (online)	1946-6242
ISSN	1946-6234
DOI	10.1126/scitranslmed.ade7028
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Article ; Online: Bacterial infections in a pediatric cohort of primary and acquired complement deficiencies.

Al-Shaikhly, Taha / Hayward, Kristen / Basiaga, Matthew L / Allenspach, Eric J

Pediatric rheumatology online journal

2020 Volume 18, Issue 1, Page(s) 74

Abstract: Background: Acquired complement deficiency can occur in the setting of autoimmune syndromes, such as systemic lupus erythematosus (SLE), with very low or, occasionally, undetectable C3 levels. Based on inherited complement defects, patients with ... ...

Abstract	Background: Acquired complement deficiency can occur in the setting of autoimmune syndromes, such as systemic lupus erythematosus (SLE), with very low or, occasionally, undetectable C3 levels. Based on inherited complement defects, patients with transiently low complement may be at similar risk for serious bacterial infection, but the degree of risk related to C3 level and temporal association is unknown. Methods: We performed a retrospective study including pediatric patients with undetectable total complement activity or absent individual complement components measured at our institution from 2002 to 2018. We assessed annual rate of serious bacterial infection (SBI) defined as requiring hospitalization and/or parenteral antibiotics by manual chart review. Among included SLE patients, we assessed the 30-day probability of SBI for given C3 measurements using a logistic regression model to determine risk. Primary complement deficiency was analyzed for SBI rate as comparison. Covariates included age, level of immune suppression and history of lupus nephritis. Results: Acquired complement deficiency secondary to SLE-related disease [n = 44] was the most common underlying diagnosis associated with depressed complement levels and were compared to a cohort of primary complement deficient patients [n = 18]. SBI per 100 person-years and cohort demographics were described in parallel. Our logistic regression analysis of pediatric patients with SLE showed low C3 level was temporally associated with having an SBI event. Given equivalent immunosuppression, patients with an SBI had lower C3 levels at the beginning of the observation period relative to patients without SBI. Conclusion: Pediatric patients with the diagnosis of SLE can develop very low C3 levels that associate with risk of serious bacterial infection comparable to that of patients with primary complement deficiency. Patients prone to severe complement consumption may particularly be at risk.
MeSH term(s)	Administration, Intravenous ; Adolescent ; Anti-Bacterial Agents/therapeutic use ; Bacterial Infections/drug therapy ; Bacterial Infections/epidemiology ; Bacterial Infections/immunology ; Child ; Child, Preschool ; Cohort Studies ; Complement C3/deficiency ; Complement C3/immunology ; Female ; Hereditary Complement Deficiency Diseases/epidemiology ; Hereditary Complement Deficiency Diseases/immunology ; Hospitalization/statistics & numerical data ; Humans ; Immunocompromised Host ; Immunosuppressive Agents/therapeutic use ; Lupus Erythematosus, Systemic/drug therapy ; Lupus Erythematosus, Systemic/epidemiology ; Lupus Erythematosus, Systemic/immunology ; Lupus Nephritis/epidemiology ; Lupus Nephritis/immunology ; Male ; Retrospective Studies ; Severity of Illness Index
Chemical Substances	Anti-Bacterial Agents ; Complement C3 ; Immunosuppressive Agents
Language	English
Publishing date	2020-09-24
Publishing country	England
Document type	Journal Article
ZDB-ID	2279468-2
ISSN	1546-0096 ; 1546-0096
ISSN (online)	1546-0096
ISSN	1546-0096
DOI	10.1186/s12969-020-00467-0
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Article ; Online: Correction to: Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.

Chau, Alice S / Cole, Bonnie L / Debley, Jason S / Nanda, Kabita / Rosen, Aaron B I / Bamshad, Michael J / Nickerson, Deborah A / Torgerson, Troy R / Allenspach, Eric J

Pediatric rheumatology online journal

2022 Volume 20, Issue 1, Page(s) 19

Language	English
Publishing date	2022-03-14
Publishing country	England
Document type	Published Erratum
ZDB-ID	2279468-2
ISSN	1546-0096 ; 1546-0096
ISSN (online)	1546-0096
ISSN	1546-0096
DOI	10.1186/s12969-021-00661-8
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Article ; Online: Behçet disease (BD) and BD-like clinical phenotypes: NF-κB pathway in mucosal ulcerating diseases.

Perazzio, Sandro F / Allenspach, Eric J / Eklund, Kari K / Varjosalo, Markku / Shinohara, Michi M / Torgerson, Troy R / Seppänen, Mikko R J

Scandinavian journal of immunology

2020 Volume 92, Issue 5, Page(s) e12973

Abstract: Behçet's disease (BD) is a heterogeneous multi-organ disorder in search of a unified pathophysiological theory and classification. The disease frequently has overlapping features resembling other disease clusters, such as vasculitides, ... ...

Abstract	Behçet's disease (BD) is a heterogeneous multi-organ disorder in search of a unified pathophysiological theory and classification. The disease frequently has overlapping features resembling other disease clusters, such as vasculitides, spondyloarthritides and thrombophilias with similar genetic risk variants, namely HLA-B*51, ERAP1, IL-10, IL-23R. Many of the BD manifestations, such as unprovoked recurrent episodes of inflammation and increased expression of IL-1, IL-6 and TNFα, overlap with those of the hereditary monogenic autoinflammatory syndromes, positioning BD at the crossroads between autoimmune and autoinflammatory syndromes. BD-like disease associates with various inborn errors of immunity, including familial Mediterranean fever, conditions related to dysregulated NF-κB activation (eg TNFAIP3, NFKB1, OTULIN, RELA, IKBKG) and either constitutional trisomy 8 or acquired trisomy 8 in myelodysplastic syndromes. We review here the recent advances in the immunopathology of BD, BD-like diseases and the NF-κB pathway suggesting new elements in the elusive BD etiopathogenesis.
MeSH term(s)	Behcet Syndrome/genetics ; Behcet Syndrome/immunology ; Behcet Syndrome/pathology ; Chromosomes, Human, Pair 8/genetics ; Chromosomes, Human, Pair 8/immunology ; Genetic Predisposition to Disease/genetics ; Humans ; Interleukin-10/genetics ; Interleukin-10/immunology ; Mouth Mucosa/immunology ; Mouth Mucosa/metabolism ; Mouth Mucosa/pathology ; NF-kappa B/genetics ; NF-kappa B/immunology ; NF-kappa B/metabolism ; Phenotype ; Skin Ulcer/genetics ; Skin Ulcer/immunology ; Skin Ulcer/pathology ; Trisomy/genetics ; Trisomy/immunology
Chemical Substances	IL10 protein, human ; NF-kappa B ; Interleukin-10 (130068-27-8)
Language	English
Publishing date	2020-10-10
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	120476-2
ISSN	1365-3083 ; 0300-9475
ISSN (online)	1365-3083
ISSN	0300-9475
DOI	10.1111/sji.12973
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Article ; Online: Adult Animal Stem Cell-Derived Organoids in Biomedical Research and the One Health Paradigm.

Gabriel, Vojtech / Zdyrski, Christopher / Sahoo, Dipak K / Ralston, Abigail / Wickham, Hannah / Bourgois-Mochel, Agnes / Ahmed, Basant / Merodio, Maria M / Paukner, Karel / Piñeyro, Pablo / Kopper, Jamie / Rowe, Eric W / Smith, Jodi D / Meyerholz, David / Kol, Amir / Viall, Austin / Elbadawy, Mohamed / Mochel, Jonathan P / Allenspach, Karin

International journal of molecular sciences

2024 Volume 25, Issue 2

Abstract: Preclinical biomedical research is limited by the predictiveness of in vivo and in vitro models. While in vivo models offer the most complex system for experimentation, they are also limited by ethical, financial, and experimental constraints. In vitro ... ...

Abstract	Preclinical biomedical research is limited by the predictiveness of in vivo and in vitro models. While in vivo models offer the most complex system for experimentation, they are also limited by ethical, financial, and experimental constraints. In vitro models are simplified models that do not offer the same complexity as living animals but do offer financial affordability and more experimental freedom; therefore, they are commonly used. Traditional 2D cell lines cannot fully simulate the complexity of the epithelium of healthy organs and limit scientific progress. The One Health Initiative was established to consolidate human, animal, and environmental health while also tackling complex and multifactorial medical problems. Reverse translational research allows for the sharing of knowledge between clinical research in veterinary and human medicine. Recently, organoid technology has been developed to mimic the original organ's epithelial microstructure and function more reliably. While human and murine organoids are available, numerous other organoids have been derived from traditional veterinary animals and exotic species in the last decade. With these additional organoid models, species previously excluded from in vitro research are becoming accessible, therefore unlocking potential translational and reverse translational applications of animals with unique adaptations that overcome common problems in veterinary and human medicine.
MeSH term(s)	Adult ; Humans ; Animals ; Mice ; One Health ; Biomedical Research ; Translational Research, Biomedical ; Adult Stem Cells ; Organoids
Language	English
Publishing date	2024-01-05
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms25020701
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