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  1. Artikel: 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.
    Schlagwörter etiology ; immunity ; phenotype ; therapeutics
    Sprache Englisch
    Erscheinungsverlauf 2021-09
    Umfang p. 57-66.
    Erscheinungsort Elsevier Ltd
    Dokumenttyp Artikel
    ZDB-ID 424427-8
    ISSN 1872-9142 ; 0161-5890
    ISSN (online) 1872-9142
    ISSN 0161-5890
    DOI 10.1016/j.molimm.2021.06.018
    Datenquelle NAL Katalog (AGRICOLA)

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  2. Artikel ; 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  Band 44, Heft 1, Seite(n) 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-Begriff(e) 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
    Chemische Substanzen Interferon Type I ; Interferon-alpha ; STAT1 protein, human ; STAT1 Transcription Factor
    Sprache Englisch
    Erscheinungsdatum 2023-12-22
    Erscheinungsland Netherlands
    Dokumenttyp 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
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; 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  Band 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-Begriff(e) Child ; Humans ; Autoimmunity/genetics ; Exome Sequencing ; Autoimmune Diseases/genetics ; Phenotype ; Genotype
    Sprache Englisch
    Erscheinungsdatum 2023-12-10
    Erscheinungsland India
    Dokumenttyp Journal Article
    ZDB-ID 3039-9
    ISSN 0973-7731 ; 0958-8361 ; 0022-1333
    ISSN (online) 0973-7731
    ISSN 0958-8361 ; 0022-1333
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; 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  Band 137, Seite(n) 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-Begriff(e) Animals ; Genetic Diseases, Inborn/genetics ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Immune System Diseases/genetics ; Pathology, Molecular ; Phenotype
    Sprache Englisch
    Erscheinungsdatum 2021-06-30
    Erscheinungsland England
    Dokumenttyp 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
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 166: Hefte anzeigen Standort:
    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)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

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