ArticleThe Journal of allergy and clinical immunology2026
Heterozygous variants in DOCK2 leading to susceptibility to viral illnesses.
Article in The Journal of allergy and clinical immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Targeting of ELMO2 by thebioRxiv : the preprint server for biology · 2026Article
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12 authors.
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Abstract
backgroundInborn errors of immunity are classically identified in infants and young children with severe or recurrent infections. However, hypomorphic variants with a partial loss of function can remain unrecognized until later in life and may underlie clinically significant susceptibility to infections in previously healthy individuals.
objectiveWe sought to investigate how 3 novel heterozygous variants in dedicator of cytokinesis 2 (DOCK2) contribute to impaired antiviral immunity, extending the understanding of DOCK2 deficiency beyond an autosomal-recessive disease.
methodsAfter identifying the first DOCK2 variant, we screened 1109 exomes from 3 cohorts of patients with a history of at least 1 severe respiratory, blood-borne, or soft-tissue infection. We assessed the biologic impact of each variant via functional and transcriptional assays of the patients' primary PBMCs and in cell-based overexpression systems.
resultsSix individuals from 3 unrelated families, aged 3 months to 50 years, carried 1 of 3 heterozygous variants in DOCK2 and experienced severe infections with human papilloma virus, respiratory syncytial virus, or severe acute respiratory syndrome coronavirus 2. All variants reside within the DOCK2 domain that binds and stabilizes ELMO1. Each variant reduced DOCK2 protein expression, ELMO1 binding, and DOCK2 function, as shown by diminished Rac1 activation and selective defects in Toll-like receptor signaling. Weekly IFN-α therapy led to complete resolution of refractory warts in 1 patient, highlighting a potential therapeutic approach for DOCK2-associated immunodeficiency.
conclusionsThese findings expand the spectrum of DOCK2-related disease by showing that heterozygous pathogenic variants disrupting DOCK2-ELMO1 interactions impair protein stability and antiviral immunity, revealing a previously unrecognized inborn error of immunity affecting otherwise healthy individuals.
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