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  1. Article: Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing

    Karimi, Esmat / Mahmoudian, Fatemeh / Reyes, Saul O. Lugo / Bargir, Umair Ahmed / Madkaikar, Manisha / Artac, Hasibe / Sabzevari, Araz / Lu, Na / Azizi, Gholamreza / Abolhassani, Hassan

    Molecular immunology. 2021 Sept., v. 137

    2021  

    Abstract: Patients with inborn errors of immunity (IEI) present with a heterogeneous clinical and immunological phenotype, therefore a correct molecular diagnosis is crucial for the classification and subsequent therapeutic management. On the other hand, IEI are a ...

    Abstract Patients with inborn errors of immunity (IEI) present with a heterogeneous clinical and immunological phenotype, therefore a correct molecular diagnosis is crucial for the classification and subsequent therapeutic management. On the other hand, IEI are a group of rare congenital diseases with highly diverse features and, in most cases, an as yet unknown genetic etiology. Next generation sequencing has facilitated genetic examinations of rare inherited disorders during the recent years, thus allowing a suitable molecular diagnosis in the IEI patients. This review aimed to investigate the current findings about these techniques in the field of IEI, suggesting an efficient stepwise approach to molecular diagnosis of inborn errors of immunity.
    Keywords etiology ; immunity ; phenotype ; therapeutics
    Language English
    Dates of publication 2021-09
    Size p. 57-66.
    Publishing place Elsevier Ltd
    Document type Article
    ZDB-ID 424427-8
    ISSN 1872-9142 ; 0161-5890
    ISSN (online) 1872-9142
    ISSN 0161-5890
    DOI 10.1016/j.molimm.2021.06.018
    Database NAL-Catalogue (AGRICOLA)

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 166: Show issues Location:
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  2. Article ; Online: Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.

    Staines-Boone, Aidé Tamara / Vignesh, Pandiarajan / Tsumura, Miyuki / de la Garza Fernández, Germán / Tyagi, Reva / Rawat, Amit / Das, Jhumki / Tomomasa, Dan / Asano, Takaki / Hijikata, Atsushi / Salazar-Gálvez, Yuridia / Kanegane, Hirokazu / Okada, Satoshi / Reyes, Saul O Lugo

    Journal of clinical immunology

    2023  Volume 44, Issue 1, Page(s) 20

    Abstract: While SARS-CoV-2 infection causes a mild disease in most children, SARS-CoV-2 infection may be lethal in a few of them. In the defense against SARS-CoV-2, type I interferons are key players, and several studies have identified a defective or neutralized ... ...

    Abstract While SARS-CoV-2 infection causes a mild disease in most children, SARS-CoV-2 infection may be lethal in a few of them. In the defense against SARS-CoV-2, type I interferons are key players, and several studies have identified a defective or neutralized interferon response as the cause of overwhelming viral infection. However, inappropriate, untimely, or excessive interferon production may also be detrimental to the host. Here, we describe two patients with STAT1 gain-of-function (GOF), a known type I interferonopathy, who died of COVID-19. Whole-exome sequencing and interferon-gamma-activated sequence (GAS) and interferon-sensitive responsive element (ISRE) reporter assay were performed to identify and characterize STAT1 variants. Patient 1 developed hemophagocytic lymphohistiocytosis (HLH) in the context of COVID-19 infection and died in less than a week at the age of 4 years. Patient 2 developed a high fever, cough, and hypoxemia and succumbed to COVID-19 pneumonia at the age of 5 years. Two heterozygous missense variants, p.E563Q and p.K344E, in STAT1 were identified. Functional validation by reporter assay and immunoblot confirmed that both variants are gain-of-function (GOF). GOF variants transiently expressing cells exhibited enhanced upregulation of downstream genes, including ISG15, MX1, and OAS1, in response to IFN-α stimulation. A catastrophic course with HLH or acute respiratory failure is thought to be associated with inappropriate immunoregulatory mechanisms to handle SARS-CoV-2 in STAT1 GOF. While most patients with inborn errors of immunity who developed COVID-19 seem to handle it well, these cases suggest that patients with STAT1-GOF might be at risk of developing fatal complications due to SARS-CoV-2.
    MeSH term(s) Child ; Child, Preschool ; Humans ; COVID-19/genetics ; Gain of Function Mutation ; Interferon Type I ; Interferon-alpha/genetics ; SARS-CoV-2/metabolism ; STAT1 Transcription Factor/genetics ; STAT1 Transcription Factor/metabolism
    Chemical Substances Interferon Type I ; Interferon-alpha ; STAT1 protein, human ; STAT1 Transcription Factor
    Language English
    Publishing date 2023-12-22
    Publishing country Netherlands
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-023-01634-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.

    Castano-Jaramillo, Lina M / Larrauri, Francisco Rivas / Scheffler-Mendoza, Selma C / Gutierrez-Hernandez, Alonso / Ogando, Juan Carlos Bustamante / Colin, Paulina / Cisneros, Margarita Ortega / Rajme-López, Sandra / Medina-Torres, Edgar Alejandro / Ruiz, Laura Berron / Rodriguez-Lozano, Ana Luisa / Padilla, Sara Elva Espinosa / Yamazaki-Nakashimada, Marco Antonio / Reyes, Saul O Lugo

    Journal of genetics

    2023  Volume 102

    Abstract: Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed to identify the potential monogenic causes of autoimmune disorders in 26 patients from a pediatric reference hospital in Mexico ... ...

    Abstract Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed to identify the potential monogenic causes of autoimmune disorders in 26 patients from a pediatric reference hospital in Mexico through whole-exome sequencing. We specifically selected patients with a family history of autoimmune diseases, early-onset symptoms, and difficult-to-control autoimmune disorders or autoimmunity associated with infection predisposition. We identified the genetic variants that were compatible with the patients' phenotype in 54% of the patients. Autoimmune diseases are often caused by a combination of genetic factors, but cases that appear at a young age are resistant to treatment or occur in clusters, as well as the presence of autoimmune symptoms alongside infectious diseases should raise suspicion for an underlying inborn error of immunity.
    MeSH term(s) Child ; Humans ; Autoimmunity/genetics ; Exome Sequencing ; Autoimmune Diseases/genetics ; Phenotype ; Genotype
    Language English
    Publishing date 2023-12-10
    Publishing country India
    Document type Journal Article
    ZDB-ID 3039-9
    ISSN 0973-7731 ; 0958-8361 ; 0022-1333
    ISSN (online) 0973-7731
    ISSN 0958-8361 ; 0022-1333
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.

    Karimi, Esmat / Mahmoudian, Fatemeh / Reyes, Saul O Lugo / Bargir, Umair Ahmed / Madkaikar, Manisha / Artac, Hasibe / Sabzevari, Araz / Lu, Na / Azizi, Gholamreza / Abolhassani, Hassan

    Molecular immunology

    2021  Volume 137, Page(s) 57–66

    Abstract: Patients with inborn errors of immunity (IEI) present with a heterogeneous clinical and immunological phenotype, therefore a correct molecular diagnosis is crucial for the classification and subsequent therapeutic management. On the other hand, IEI are a ...

    Abstract Patients with inborn errors of immunity (IEI) present with a heterogeneous clinical and immunological phenotype, therefore a correct molecular diagnosis is crucial for the classification and subsequent therapeutic management. On the other hand, IEI are a group of rare congenital diseases with highly diverse features and, in most cases, an as yet unknown genetic etiology. Next generation sequencing has facilitated genetic examinations of rare inherited disorders during the recent years, thus allowing a suitable molecular diagnosis in the IEI patients. This review aimed to investigate the current findings about these techniques in the field of IEI, suggesting an efficient stepwise approach to molecular diagnosis of inborn errors of immunity.
    MeSH term(s) Animals ; Genetic Diseases, Inborn/genetics ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Immune System Diseases/genetics ; Pathology, Molecular ; Phenotype
    Language English
    Publishing date 2021-06-30
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 424427-8
    ISSN 1872-9142 ; 0161-5890
    ISSN (online) 1872-9142
    ISSN 0161-5890
    DOI 10.1016/j.molimm.2021.06.018
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 166: 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)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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