ReviewCell genomics2026
Monogenic disorders of immunity: Common variants are not so rare.
Review in Cell genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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
3 citing papers in PubMed.
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- TIM-3 in AML: pathogenic roles and therapeutic targetability.Clinical and experimental medicine · 2026Review
- Expanding the scope of human immunology in theJournal of human immunity · 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
2 authors.
Funding
Abstract
According to the current paradigm, human monogenic disorders underlying immunological phenotypes are due to rare (frequency <1%) as opposed to common (>1%) alleles. However, as reviewed here, an increasing number of studies have reported monogenic disorders of immunity, recessive or dominant, involving alleles that are currently common in specific small or large populations. Examples range from IFNAR1 and IFNAR2 null alleles in the Arctic and Pacific to PTCRA hypomorphic alleles in South Asia. This situation may be explained by a history of (1) population bottlenecks followed by expansion; (2) genetic drift before the advent of an environmental trigger; (3) slow purging, especially for recessive, mild, or incompletely penetrant conditions; and/or (4) balancing selection with a heterozygous advantage. In patients with suspected monogenic immunological conditions, a role for alleles common in the corresponding population should not be excluded. At odds with the prevailing view, common alleles may underlie monogenic disorders of immunity and should therefore be considered.
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What Socratic 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 Socratic graph.