Evidence map›Paper›PMID 42883801›Full record

ReviewInternational journal of molecular sciences2026

A Mechanistic Framework for Somatic Mosaicism in Autoinflammatory Diseases Beyond Mendelian Inheritance.

Anoushka Krishnakumar, Elisabetta Tabolacci, Donato Rigante

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Anoushka KrishnakumarDepartment of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168 Rome, Italy.ORCID 0009-0008-7667-6636
Elisabetta TabolacciUOC Genetica Medica, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-4707-2242
Donato RiganteDepartment of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168 Rome, Italy.ORCID 0000-0001-7032-7779

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary autoinflammatory diseases have traditionally been defined as disorders caused by germline mutations in innate immune pathway genes transmitted through Mendelian inheritance, an assumption challenged by the discovery that postzygotic somatic mosaicism can reproduce similar autoinflammatory phenotypes. Aim of the review is to synthesize the mechanistic evidence for somatic and gonadal mosaicism across the major monogenic autoinflammatory diseases and to reassess the adequacy of "hereditary" as a categorical descriptor for this disease class. A structured narrative review of PubMed/MEDLINE was conducted (2002-2026), screening 241 records for evidence of somatic mosaicism in

Indexed as

Hereditary Autoinflammatory DiseasesMosaicismGenetic Predisposition to DiseaseHumansMutationNLR Family, Pyrin Domain-Containing 3 ProteinPhosphotransferases (Alcohol Group Acceptor)NLR Family, Pyrin Domain-Containing 3 ProteinNLRP3 protein, humanPhosphotransferases (Alcohol Group Acceptor)autoinflammationautoinflammatory diseasegenetic analysisinnovative biotechnologiesmosaicismpersonalized medicinesomatic mutation

Identifiers

PMID42883801
PMCPMC13664740

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.