Evidence map›Paper›PMID 41394846›Full record

ArticleFrontiers in immunology2025

Mapping the landscape of autoimmunity and autoinflammation in inborn errors of immunity: broad distribution with distinct clustering patterns.

Azzeddine Tahiat, Souad Touri, Amina Saad-Djaballah, Saliha Hakem, Faiza Fernini, Samira Aggoune, Hayet Belhadj, Chafa Bendahmane, Linda Mokrane, Tahar Bencharif Madani and 21 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
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

31 authors.

Azzeddine TahiatDepartment of Medical Biology, Rouiba Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Souad TouriDepartment of Pediatrics, Blida University Hospital, University of Blida, Blida, Algeria.
Amina Saad-DjaballahDepartment of Pediatrics, Bologhine Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Saliha HakemDepartment of Pediatrics, Mustapha University Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Faiza FerniniDepartment of Pediatrics, Mustapha University Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Samira AggouneDepartment of Pediatrics, El-Harrach Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Hayet BelhadjDepartment of Pediatrics, Army Mother and Child Hospital, University of Health Sciences, Algiers, Algeria.
Chafa BendahmaneDepartment of Pediatrics, Ain Taya Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Linda MokraneDepartment of Medical Biology, Rouiba Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Tahar Bencharif MadaniDepartment of Pediatrics, Mansourah Hospital, University of Constantine, Constantine, Algeria.
Zouleikha BenhacineDepartment of Pediatrics, Constantine University Hospital, University of Constantine, Constantine, Algeria.
Souhila MelziDepartment of Pediatrics, Bab El-Oued University Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Rawda AbouraDepartment of Pediatrics, Bab El-Oued University Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Hassen MessaoudiDepartment of Internal Medicine, Rouiba Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Houda BoudiafDepartment of Pediatric Oncology, Mustapha University Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Mohamed Samir LadjDepartment of Pediatrics, Birtraria Hospital El Biar, Algiers University of Health Sciences, Algiers, Algeria.
Tahar Khelifi TouhamiPrivate Practitioner, Constantine, Algeria.
Lynda TaibiDepartment of Dermatology, Mustapha University Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Samira ZobiriDepartment of Dermatology, Mustapha University Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Rachid BouhdjilaDepartment of Pediatrics, Constantine University Hospital, University of Constantine, Constantine, Algeria.
Zahir BouzerarDepartment of Pediatrics, Bab El-Oued University Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Ouardia IbsaineDepartment of Pediatrics, Ain Taya Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Leila KedjiDepartment of Pediatrics, Blida University Hospital, University of Blida, Blida, Algeria.
Abdelghani YagoubiPediatric Gastroenterology, Centre Algérois de Pédiatrie, Algiers, Algeria.
Reda BelbouabDepartment of Pediatrics, Mustapha University Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Rachida BoukariDepartment of Pediatrics, Mustapha University Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Leila SmatiDepartment of Pediatrics, Bologhine Hospital, Algiers University of Health Sciences, Algiers, Algeria.
Sergio D RosenzweigImmunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States.
Dusan BogunovicDepartment of Pediatrics, Center for Genetic Errors of Immunity, Columbia University, New York, NY, United States.
Luigi D NotarangeloNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Kamel DjenouhatDepartment of Medical Biology, Rouiba Hospital, Algiers University of Health Sciences, Algiers, Algeria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: In this study, we analyzed a large cohort of Algerian patients with inborn errors of immunity (IEI) to delineate the burden, spectrum, and distribution of autoimmune and autoinflammatory manifestations. Methods: This retrospective cohort study was based on recorded data from 825 Algerian patients with IEI. For each patient, autoimmune and autoinflammatory complications occurring before and/or after IEI diagnosis were systematically assessed and documented. Results: Autoimmune and/or autoinflammatory manifestations were observed in 217 patients (26.3%) and, notably, represented the initial clinical presentation in nearly half. Autoimmune features were documented in 163 patients (19.8%), including 26 (3.2%) with concurrent autoinflammatory findings, whereas isolated autoinflammatory conditions were observed in 54 patients (6.5%). A broad spectrum was observed, with autoimmune cytopenias predominating (11.4%), followed by gastrointestinal (7.8%), rheumatologic (5.3%), and endocrine (3.4%) disorders. Immune dysregulation was a recurrent theme across all IEI categories, with a distinct, disease-specific, clustering of autoimmunity and autoinflammation. Autoimmune cytopenias predominated in T-cell defects, including hypomorphic RAG and CD3γ deficiencies; Inflammatory bowel disease (IBD) was enriched in ARPC1B, DOCK8, and CD55 deficiencies, as well as in chronic granulomatous disease (CGD); endocrine autoimmunity, while a cardinal feature of APECED and IPEX, also characterized STAT1 gain-of-function; inflammatory granulomatous lung disease was a consistent feature in LRBA deficiency; and granulomatous inflammation, whether confined to the lungs or extending to other organs, was prominent in common variable immunodeficiency. Conclusion: Recognition of clustering patterns, particularly autoimmune cytopenias, IBD, and endocrine autoimmunity, has direct clinical implications. These manifestations should be regarded as red flags, guiding targeted evaluation and genetic testing. Mapping such associations not only refines our understanding of pathogenesis but also provides a practical framework for earlier diagnosis and tailored management.

Indexed as

Autoimmune DiseasesAutoimmunityPrimary Immunodeficiency DiseasesAdolescentAdultChildChild, PreschoolCluster AnalysisFemaleHumansInfantInflammationMaleRetrospective StudiesYoung Adultautoimmune cytopeniaautoimmunityautoinflammationCD55 deficiencyclustering patternsinborn errors of immunityinflammatory bowel diseaseRAG deficiency

Identifiers

PMID41394846
PMCPMC12698554

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.