ReviewJournal of human immunity2025
Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.
Review in Journal of human immunity, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed.
- Article
- Iterative genetic testing identifiesJournal of human immunity · 2026Article
- Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies.NPJ genomic medicine · 2026Article
- Primary atopic disorders: Monogenic insights into immunity.Journal of human immunity · 2026Review
- Inherited human TFIIIA deficiency disrupts T cell development.medRxiv : the preprint server for health sciences · 2026Article
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- Expanding the scope of human immunology in theJournal of human immunity · 2026Article
- Novel pathogenicFrontiers in immunology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
Primary immunodeficiencies (PIDs), more recently renamed inborn errors of immunity (IEIs), are a diverse group of over 550 genetic disorders. They cause clinically apparent immune dysregulation, leading to infections, autoinflammation, autoimmunity, and cancer. Initially, most IEIs were described as Mendelian disorders with complete penetrance, but the community has now shown that, in most IEIs, some individuals harboring disease-causing genotypes display only partial clinical disease, or no disease at all. Thus, most IEIs are actually Mendelian disorders with incomplete penetrance. Despite the frequency of incomplete penetrance in IEIs, the conceptual framework for systematically categorizing and explaining these occurrences remains limited. Here, I expand on four recurrent themes of incomplete penetrance that we have recently proposed: genetic variant quality, epigenetic and genetic modification, environment, and mosaicism. For each of these principles, I review what is known and unknown and propose future experimental approaches to fill the gaps in our knowledge. I focus on IEIs, but these concepts can be generalized to all genetic diseases.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.