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Article: Interferon-Driven Immune Dysregulation in Down Syndrome: A Review of the Evidence.

Chung, Howard / Green, Peter H R / Wang, Timothy C / Kong, Xiao-Fei

2021 Volume 14, Page(s) 5187–5200

Abstract: Down syndrome (DS) is a unique genetic disease caused by the presence of an extra copy of chromosome 21, which carries four of the six interferon receptor (IFN-R) genes on its long arm. Recent studies reporting higher levels of interferon-stimulated gene ...

Abstract	Down syndrome (DS) is a unique genetic disease caused by the presence of an extra copy of chromosome 21, which carries four of the six interferon receptor (IFN-R) genes on its long arm. Recent studies reporting higher levels of interferon-stimulated gene (ISG) expression in primary immune cells studied ex vivo have suggested that the additional copies of the IFN-R genes in DS result in mild interferonopathy. In this review, we analyze the potential clinical and immunological impacts of this interferonopathy in DS. We performed a literature review to explore the epidemiology and risks of celiac disease, type 1 diabetes, thyroid dysfunction, mucocutaneous manifestations, infectious diseases (including COVID-19), and Alzheimer's disease in individuals with DS relative to the general population with or without iatrogenic exposure to interferons. We analyzed immunophenotyping data and the current experimental evidence concerning IFN-R expression, constitutive JAK-STAT activation, and ISG overexpression in DS. Despite the lack of direct evidence that implicating this mild interferonopathy directly in illnesses in individuals with DS, we highlight the challenges ahead and directions that could be taken to determine more clearly the biological impact of interferonopathy on various immune-related conditions in DS.
Language	English
Publishing date	2021-10-07
Publishing country	New Zealand
Document type	Journal Article ; Review
ZDB-ID	2494878-0
ISSN	1178-7031
ISSN	1178-7031
DOI	10.2147/JIR.S280953
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Article ; Online: Measurement of CD74 N-terminal Fragment Accumulation in Cells Treated with SPPL2a Inhibitor.

Martínez-Barricarte, Rubén / Kong, Xiao-Fei / Casanova, Jean-Laurent

Bio-protocol

2019 Volume 9, Issue 11, Page(s) e3254

Abstract: The recent discovery of human signal peptide peptidase-like 2a (SPPL2a) deficiency in humans revealed the toxicity associated with the accumulation of one of its substrates, CD74 N-terminal fragment (CD74-NTF), for certain type of dendritic cells (cDC2). ...

Abstract	The recent discovery of human signal peptide peptidase-like 2a (SPPL2a) deficiency in humans revealed the toxicity associated with the accumulation of one of its substrates, CD74 N-terminal fragment (CD74-NTF), for certain type of dendritic cells (cDC2). We developed a two-step protocol for monitoring the accumulation of this molecule in different subsets of PBMCs and immortalized B cells, in which SPPL2a is chemically inhibited and CD74-NTF levels are then assessed by flow cytometry or western blotting. The chemical inhibition of SPPL2a has been described elsewhere, but this is the first time that this inhibition has been reported as a protocol.
Language	English
Publishing date	2019-06-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	2833269-6
ISSN	2331-8325 ; 2331-8325
ISSN (online)	2331-8325
ISSN	2331-8325
DOI	10.21769/BioProtoc.3254
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Article ; Online: The Light at the End of the Tunnel.

Krigel, Anna / Kong, Xiao-Fei / Freedberg, Daniel E

Gastroenterology

2019 Volume 156, Issue 5, Page(s) e10–e11

MeSH term(s)	Adult ; Angiodysplasia/complications ; Angiodysplasia/diagnosis ; Capsule Endoscopes ; Capsule Endoscopy/instrumentation ; Humans ; Intestine, Small/blood supply ; Intestine, Small/pathology ; Jejunal Diseases/complications ; Jejunal Diseases/diagnosis ; Male ; Stomatitis, Aphthous/complications ; Stomatitis, Aphthous/diagnosis
Language	English
Publishing date	2019-01-02
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	80112-4
ISSN	1528-0012 ; 0016-5085
ISSN (online)	1528-0012
ISSN	0016-5085
DOI	10.1053/j.gastro.2018.11.072
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Article: Corrigendum: The development and progression of micro-nano optics.

Wang, Yong / Yang, Jie / Wang, Zhiwei / Kong, Xiaofei / Sun, Xiangyu / Tian, Jingjing / Zhang, Xiushuo / Zhao, Xiaolong / Liu, Yanping / Li, Hongsheng / Su, Yuqing / Hao, Xiaorui / Xu, Jing

Frontiers in chemistry

2023 Volume 11, Page(s) 1351934

Abstract: This corrects the article DOI: 10.3389/fchem.2022.916553.]. ...

Abstract	[This corrects the article DOI: 10.3389/fchem.2022.916553.].
Language	English
Publishing date	2023-12-15
Publishing country	Switzerland
Document type	Published Erratum
ZDB-ID	2711776-5
ISSN	2296-2646
ISSN	2296-2646
DOI	10.3389/fchem.2023.1351934
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Article: Corrigendum: The development of microscopic imaging technology and its application in micro-and nanotechnology.

Wang, Yong / Zhang, Xiushuo / Xu, Jing / Sun, Xiangyu / Zhao, Xiaolong / Li, Hongsheng / Liu, Yanping / Tian, Jingjing / Hao, Xiaorui / Kong, Xiaofei / Wang, Zhiwei / Yang, Jie / Su, Yuqing

Frontiers in chemistry

2023 Volume 11, Page(s) 1351941

Abstract: This corrects the article DOI: 10.3389/fchem.2022.931169.]. ...

Abstract	[This corrects the article DOI: 10.3389/fchem.2022.931169.].
Language	English
Publishing date	2023-12-14
Publishing country	Switzerland
Document type	Published Erratum
ZDB-ID	2711776-5
ISSN	2296-2646
ISSN	2296-2646
DOI	10.3389/fchem.2023.1351941
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Article ; Online: Serological Investigation of Persistent Villous Atrophy in Celiac Disease.

Gong, Changlin / Saborit, Claudia / Long, Xin / Wang, Ao / Zheng, Beishi / Chung, Howard / Lewis, Suzanne K / Krishnareddy, Suneeta / Bhagat, Govind / Green, Peter H R / Kong, Xiao-Fei

Clinical and translational gastroenterology

2023 Volume 14, Issue 12, Page(s) e00639

Abstract: Introduction: Persistent villous atrophy (VA) is not uncommon in celiac disease (CeD) while patients take a gluten-free diet (GFD).: Methods: We conducted a retrospective study with 122 serum samples collected from controls and patients with CeD ... ...

Abstract	Introduction: Persistent villous atrophy (VA) is not uncommon in celiac disease (CeD) while patients take a gluten-free diet (GFD). Methods: We conducted a retrospective study with 122 serum samples collected from controls and patients with CeD either at the initial diagnosis or at the follow-up during endoscopy. These samples were assigned to 3 groups: nonceliac control, non-VA CeD (Marsh score 0-2), and VA CeD (Marsh score 3a-3c). We established an in-house multiplex assay to identify potential serological biomarkers for VA. We assessed autoantibodies reported to affect the small intestine, including IgA and IgG antibodies against tissue transglutaminase (tTG), interferons, villin, actin, autoimmune enteropathy-related 75 kDa antigen (AIE-75), and tryptophan hydroxylase (TPH)-1, as well as 27 cytokines. The apolipoproteins quantified included apo A1, apo B-100, and apo A4, which were produced predominantly by the intestinal epithelium or expressed specifically in villi. Results: Autoantibody levels were high only for tTG antibodies, which performed well in initial CeD diagnosis, but suboptimally for VA prediction during follow-up, because 14.6% of the follow-up patients with VA had low tTG-IgA. Increasing dilution improved tTG-IgA quantification, particularly when the antibody levels were extremely high but did not significantly improve VA detection. Among those with low tTG-IgA and persistent VA, high proinflammatory cytokines were observed in 2 patients. Median low-density lipoprotein cholesterol levels were significantly lower in the VA CeD group ( P = 0.03). Apolipoprotein levels were similar in patients with and without VA but diverged between those on a GFD or not. Discussion: tTG-IgA as a biomarker is suboptimal for VA prediction while on a GFD. Persistent VA is associated with low low-density lipoprotein cholesterol levels and partially related to persistent high proinflammatory cytokines.
MeSH term(s)	Humans ; Celiac Disease ; Retrospective Studies ; Transglutaminases ; Biomarkers ; Autoantibodies ; Immunoglobulin A ; Atrophy ; Cytokines ; Lipoproteins, LDL ; Cholesterol
Chemical Substances	Transglutaminases (EC 2.3.2.13) ; Biomarkers ; Autoantibodies ; Immunoglobulin A ; Cytokines ; Lipoproteins, LDL ; Cholesterol (97C5T2UQ7J)
Language	English
Publishing date	2023-12-01
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2581516-7
ISSN	2155-384X ; 2155-384X
ISSN (online)	2155-384X
ISSN	2155-384X
DOI	10.14309/ctg.0000000000000639
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Article: The Development of Microscopic Imaging Technology and its Application in Micro- and Nanotechnology.

Wang, Yong / Zhang, Xiushuo / Xu, Jing / Sun, Xiangyu / Zhao, Xiaolong / Li, Hongsheng / Liu, Yanping / Tian, Jingjing / Hao, Xiaorui / Kong, Xiaofei / Wang, Zhiwei / Yang, Jie / Su, Yuqing

Frontiers in chemistry

2022 Volume 10, Page(s) 931169

Abstract: As a typical microscopic imaging technology, the emergence of the microscope has accelerated the pace of human exploration of the micro world. With the development of science and technology, microscopes have developed from the optical microscopes at the ... ...

Abstract	As a typical microscopic imaging technology, the emergence of the microscope has accelerated the pace of human exploration of the micro world. With the development of science and technology, microscopes have developed from the optical microscopes at the time of their invention to electron microscopes and even atomic force microscopes. The resolution has steadily improved, allowing humans to expand the field of research from the initial animal and plant tissues to microorganisms such as bacteria, and even down to the nanolevel. The microscope is now widely used in life science, material science, geological research, and other fields. It can be said that the development of microscopes also promotes the development of micro- and nanotechnology. It is foreseeable that microscopes will play a significant part in the exploration of the microworld for a long time to come. The development of microscope technology is the focus of this study, which summarized the properties of numerous microscopes and discussed their applications in micro and nanotechnology. At the same time, the application of microscopic imaging technology in micro- and nanofields was investigated based on the properties of various microscopes.
Language	English
Publishing date	2022-07-05
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2711776-5
ISSN	2296-2646
ISSN	2296-2646
DOI	10.3389/fchem.2022.931169
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Article: The Development and Progression of Micro-Nano Optics.

Wang, Yong / Yang, Jie / Wang, Zhiwei / Kong, Xiaofei / Sun, Xiangyu / Tian, Jingjing / Zhang, Xiushuo / Zhao, Xiaolong / Liu, Yanping / Li, Hongsheng / Su, Yuqing / Hao, Xiaorui / Xu, Jing

Frontiers in chemistry

2022 Volume 10, Page(s) 916553

Abstract: Micro-Nano optics is one of the most active frontiers in the current development of optics. It combines the cutting-edge achievements of photonics and nanotechnology, which can realize many brand-new functions on the basis of local electromagnetic ... ...

Abstract	Micro-Nano optics is one of the most active frontiers in the current development of optics. It combines the cutting-edge achievements of photonics and nanotechnology, which can realize many brand-new functions on the basis of local electromagnetic interactions and become an indispensable key science and technology of the 21st century. Micro-Nano optics is also an important development direction of the new optoelectronics industry at present. It plays an irreplaceable role in optical communication, optical interconnection, optical storage, sensing imaging, sensing measurement, display, solid-state lighting, biomedicine, security, green energy, and other fields. In this paper, we will summarize the research status of micro-nano optics, and analyze it from four aspects: micro-nano luminescent materials and devices, micro-nano optical waveguide materials and devices, micro-nano photoelectric detection materials and devices, and micro-nano optical structures and devices. Finally, the future development of micro-nano optics will be prospected.
Language	English
Publishing date	2022-06-20
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2711776-5
ISSN	2296-2646
ISSN	2296-2646
DOI	10.3389/fchem.2022.916553
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Article ; Online: Immunogenetics of gastrointestinal cancers: A systematic review and retrospective survey of inborn errors of immunity in humans.

Zheng, Beishi / Artin, Michael G / Chung, Howard / Chen, Bing / Sun, Siming / May, Benjamin L / Hur, Chin / Green, Peter H R / Wang, Timothy C / Park, Jiheum / Kong, Xiao-Fei

Journal of gastroenterology and hepatology

2022 Volume 37, Issue 6, Page(s) 973–982

Abstract: Background and aim: Humans with inborn errors of immunity (IEI), or primary immunodeficiencies, may be associated with a potential risk factor for early-onset gastrointestinal (GI) cancer.: Methods: We systematically reviewed all cases with clinical ... ...

Abstract	Background and aim: Humans with inborn errors of immunity (IEI), or primary immunodeficiencies, may be associated with a potential risk factor for early-onset gastrointestinal (GI) cancer. Methods: We systematically reviewed all cases with clinical diagnoses of both an IEI and a GI cancer in three databases (MEDLINE, SCOPUS, and EMBASE). In total, 76 publications satisfying our inclusion criteria were identified, and data for 149 cases were analyzed. We also searched our institutional cancer registry for such cases. Results: We identified 149 patients with both an IEI and a GI cancer, 95 presented gastric cancer, 13 small bowel cancer, 35 colorectal cancer, and 6 had an unspecified cancer or cancer at another site. Gastric and colon adenocarcinomas were the most common. For both gastric and colorectal cancers, age at onset was significantly earlier in patients with IEIs than in the general population, based on the SEER database. Common variable immunodeficiency (CVID) was the most common IEI associated with gastrointestinal cancer. About 12% of patients had molecular genetic diagnoses, the three most frequently implicated genes being ATM, CARMIL2, and CTLA4. Impaired humoral immunity and Epstein-Barr virus (EBV) infection were frequently reported as factors potentially underlying early-onset GI cancers in patients with IEIs. We identified one patient with CVID and early-onset gastric adenocarcinoma, recurrent diarrhea, and gastrointestinal CMV infection from a retrospective survey. Conclusion: Patients with IEIs should be considered at risk of early-onset GI cancers and should therefore undergo cancer screening at an earlier age.
MeSH term(s)	Epstein-Barr Virus Infections/complications ; Gastrointestinal Neoplasms/epidemiology ; Herpesvirus 4, Human ; Humans ; Immunogenetics ; Retrospective Studies ; Stomach Neoplasms/epidemiology
Language	English
Publishing date	2022-04-13
Publishing country	Australia
Document type	Journal Article ; Review ; Systematic Review
ZDB-ID	632882-9
ISSN	1440-1746 ; 0815-9319
ISSN (online)	1440-1746
ISSN	0815-9319
DOI	10.1111/jgh.15848
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Article ; Online: Individuals with Down syndrome hospitalized with COVID-19 have more severe disease.

Malle, Louise / Gao, Cynthia / Hur, Chin / Truong, Han Q / Bouvier, Nicole M / Percha, Bethany / Kong, Xiao-Fei / Bogunovic, Dusan

Genetics in medicine : official journal of the American College of Medical Genetics

2020 Volume 23, Issue 3, Page(s) 576–580

Abstract: Purpose: Rare genetic conditions like Down syndrome (DS) are historically understudied. Infection is a leading cause of mortality in DS, along with cardiac anomalies. Currently, it is unknown how the COVID-19 pandemic affects individuals with DS. Herein, ...

Abstract	Purpose: Rare genetic conditions like Down syndrome (DS) are historically understudied. Infection is a leading cause of mortality in DS, along with cardiac anomalies. Currently, it is unknown how the COVID-19 pandemic affects individuals with DS. Herein, we report an analysis of individuals with DS who were hospitalized with COVID-19 in New York, New York, USA. Methods: In this retrospective, dual-center study of 7246 patients hospitalized with COVID-19, we analyzed all patients with DS admitted in the Mount Sinai Health System and Columbia University Irving Medical Center. We assessed hospitalization rates, clinical characteristics, and outcomes. Results: We identified 12 patients with DS. Hospitalized individuals with DS are on average ten years younger than patients without DS. Patients with DS have more severe disease than controls, particularly an increased incidence of sepsis and mechanical ventilation. Conclusion: We demonstrate that individuals with DS who are hospitalized with COVID-19 are younger than their non-DS counterparts, and that they have more severe disease than age-matched controls. We conclude that particular care should be considered for both the prevention and treatment of COVID-19 in these patients.
MeSH term(s)	Adult ; COVID-19/pathology ; Comorbidity ; Down Syndrome/complications ; Female ; Hospitalization ; Humans ; Male ; Middle Aged ; New York/epidemiology ; Pandemics ; Retrospective Studies
Keywords	covid19
Language	English
Publishing date	2020-10-16
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-020-01004-w
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