Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?

Ku, Cheng-Lung; Chi, Chih-Yu; Bernuth, Horst von; Döffinger, Rainer

doi:10.1007/s00439-020-02180-0

Cited by 75 publications

(70 citation statements)

References 112 publications

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“…These studies defined a crucial and non-redundant role for type 1 IFNs in immune control of SARS-CoV2 infection, and thus prevention of severe COVID-19. Furthermore, they also established that autoAbs against type 1 IFN phenocopy an inborn error of immunity, as previously determined for autoAbs against IFNγ and susceptibility to mycobacterial disease, anti-Th17 cytokine (IL-17A, IL-17F, IL-22) autoAbs in individuals with chronic mucocutaneous candidiasis, or pyogenic infections due to anti-IL-6 autoAbs [ 64 , 69 ].…”

Section: Sars-cov2 and Inborn Errors Of Immunitymentioning

confidence: 78%

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

et al. 2021

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The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.

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Section: Sars-cov2 and Inborn Errors Of Immunitymentioning

confidence: 78%

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

et al. 2021

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“…Unfortunately, a few monogenic infectious diseases described in Table 1 are not reviewed here, including Whipple's disease (Tropheryma whipplei) due to IRF4 deficiency (Guerin et al 2018), Kaposi sarcoma (human herpes virus 8) due to OX40 deficiency (Byun et al 2013), lethal cytomegalovirus infection due to NOS2 deficiency (Drutman et al 2020), and trypanosomiasis (Trypanosoma evansi) due to APOL1 deficiency (Vanhollebeke et al 2006). One chapter addresses the timely question of interaction between the human genome and the viral genome (Jacques Fellay) (Fellay and Pedergnana 2019); whereas, another reviews autoimmune phenocopies of monogenic infections due to autoantibodies against cytokines (Cheng-Lung Ku and Rainer Doffinger) (Ku et al 2020). Finally, we have invited colleagues outside the field of the human genetics of infectious diseases to contribute to this issue with reviews about the genetic basis of infections in other species.…”

Section: Topics Covered In This Special Issuementioning

confidence: 99%

The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?

Casanova

Abel

2020

Hum Genet

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Multicellular eukaryotes emerged late in evolution from an ocean of viruses, bacteria, archaea, and unicellular eukaryotes. These macroorganisms are exposed to and infected by a tremendous diversity of microorganisms. Those that are large enough can even be infected by multicellular fungi and parasites. Each interaction is unique, if only because it operates between two unique living organisms, in an infinite diversity of circumstances. This is neatly illustrated by the extraordinarily high level of interindividual clinical variability in human infections, even for a given pathogen, ranging from a total absence of clinical manifestations to death. We discuss here the idea that the determinism of human life-threatening infectious diseases can be governed by single-gene inborn errors of immunity, which are rarely Mendelian and frequently display incomplete penetrance. We briefly review the evidence in support of this notion obtained over the last two decades, referring to a number of focused and thorough reviews published by eminent colleagues in this issue of Human Genetics. It seems that almost any life-threatening infectious disease can be driven by at least one, and, perhaps, a great many diverse monogenic inborn errors, which may nonetheless be immunologically related. While the proportions of monogenic cases remain unknown, a picture in which genetic heterogeneity is combined with physiological homogeneity is emerging from these studies. A preliminary sketch of the human genetic architecture of severe infectious diseases is perhaps in sight.

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“…Cette découverte nous a conduits à tester l'hypothèse selon laquelle une pneumonie COVID-19 grave pourrait résulter d'une atteinte de l'immunité dépendante des IFN de type I, mais résultant d'autres causes chez les patients n'ayant pas ces défauts génétiques. Des phénocopies auto-immunes de trois erreurs innées de l'immunité aux cytokines ont été décrites, dans lesquelles des auto-anticorps (auto-Ac) neutralisants contre l'interféron-γ (IFN-γ) (infections mycobactériennes), l'interleukine-6 (IL-6) (infections staphylococciques), et l'IL-17A et l'IL-17F (candidose muco-cutanée) miment cliniquement les phénotypes infectieux des patients ayant des mutations germinales des gènes codant les cytokines ou récepteurs correspondants [8,[28][29][30][31][32][33][34]. Des auto-Ac contre les IFNs de type I ont été rapportés chez certains patients présentant d'autres maladies non infectieuses sous-jacentes, mais pas chez des patients atteints d'infections virales graves, à l'exception d'un malade décrit par Ion Gresser en [35].…”

Section: French Versionunclassified

“…This discovery led us to test the hypothesis that severe COVID-19 might result from disruptions to type I IFN immunity of other causes in other patients. B-cell autoimmune infectious phenocopies of three inborn errors of cytokine immunity have been described, in which neutralizing autoantibodies (auto-Abs) against interferon-γ (IFN-γ) (mycobacterial disease), interleukin-6 (IL-6) (staphylococcal disease), and IL-17A and IL-17F (mucocutaneous candidiasis) mimic the clinical phenotypes of germline mutations of the genes encoding the corresponding cytokines or receptors [8,[28][29][30][31][32][33][34]. Auto-Abs against type I IFN have been reported in patients with a few underlying noninfectious conditions, but not in patients with severe viral infections, with the exception of a patient described by Ion Gresser in [35].…”

mentioning

confidence: 99%