A novel hemizygous nonsense variant in DOCK11 causes systemic inflammation and immunodeficiency Article Swipe
Abdulwahab Elsayed
,
Sandra von Hardenberg
,
Faranaz Atschekzei
,
Paul Siek
,
T Witte
,
Georgios Sogkas
,
Felix C. Ringshausen
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1016/j.clim.2025.110504
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1016/j.clim.2025.110504
Hemizygous germline loss-of-function variants in DOCK11, the gene encoding the dedicator of cytokinesis 11 (DOCK11) have been recently identified to cause variable immunodeficiency and immune dysregulation. Features of immune dysregulation have been reported in all so far identified male patients with damaging variants in DOCK11, commonly manifesting with autoimmune cytopenias, inflammatory bowel disease, benign lymphoproliferation and systemic inflammation. In this study, we identified a novel variant in DOCK11 (c.3754C > T, p.(Q1252*)), leading to loss of protein expression, in a patient with a history of recurrent pneumonia, bronchiectasis, infection-triggered hyperinflammation and persistent systemic inflammation. Reevaluation of all previously identified patients and the current case, reveals that variants leading to the complete loss of DOCK11 expression and consequently function rather associate with autoinflammation and recurrent pneumonias, while missense variants, primarily associate with autoantibody-related autoimmune features.
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Metadata
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- Language
- en
- Landing Page
- https://doi.org/10.1016/j.clim.2025.110504
- OA Status
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- Cited By
- 3
- References
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- Related Works
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- OpenAlex ID
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All OpenAlex metadata
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https://openalex.org/W4409686974Canonical identifier for this work in OpenAlex
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https://doi.org/10.1016/j.clim.2025.110504Digital Object Identifier
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A novel hemizygous nonsense variant in DOCK11 causes systemic inflammation and immunodeficiencyWork title
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articleOpenAlex work type
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enPrimary language
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2025Year of publication
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2025-04-22Full publication date if available
- Authors
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Abdulwahab Elsayed, Sandra von Hardenberg, Faranaz Atschekzei, Paul Siek, T Witte, Georgios Sogkas, Felix C. RingshausenList of authors in order
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https://doi.org/10.1016/j.clim.2025.110504Publisher landing page
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://doi.org/10.1016/j.clim.2025.110504Direct OA link when available
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Systemic inflammation, Nonsense, Inflammation, Human immunodeficiency virus (HIV), Immunodeficiency, Medicine, Immunology, Biology, Genetics, Immune system, GeneTop concepts (fields/topics) attached by OpenAlex
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3Total citation count in OpenAlex
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2025: 3Per-year citation counts (last 5 years)
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18Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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