# Opinion: Why paediatric rheumatologists need to understand inborn errors of immunity

**Authors:** Mario Abinun, Stephen Owens

PMC · DOI: 10.3389/fped.2025.1755761 · Frontiers in Pediatrics · 2026-02-05

## Full-text entities

- **Genes:** STAT2 (signal transducer and activator of transcription 2) [NCBI Gene 6773] {aka IMD44, ISGF-3, P113, PTORCH3, STAT113}, IRAK4 (interleukin 1 receptor associated kinase 4) [NCBI Gene 51135] {aka IMD67, IPD1, IRAK-4, NY-REN-64, REN64}, FAS (Fas cell surface death receptor) [NCBI Gene 355] {aka ALPS1A, APO-1, APT1, CD95, FAS1, FASTM}, MEFV (MEFV innate immunity regulator, pyrin) [NCBI Gene 4210] {aka FMF, MEF, PAAND, TRIM20}, MYD88 (MYD88 innate immune signal transduction adaptor) [NCBI Gene 4615] {aka IMD68, MYD88D, WM1}, IFNA1 (interferon alpha 1) [NCBI Gene 3439] {aka IFL, IFN, IFN-ALPHA, IFN-alphaD, IFNA13, IFNA@}, TNFRSF1A (TNF receptor superfamily member 1A) [NCBI Gene 7132] {aka CD120a, FPF, TBP1, TNF-R, TNF-R-I, TNF-R55}, ADA2 (adenosine deaminase 2) [NCBI Gene 51816] {aka ADGF, CECR1, IDGFL, PAN, SNEDS, VAIHS}, IL1A (interleukin 1 alpha) [NCBI Gene 3552] {aka IL-1 alpha, IL-1A, IL1, IL1-ALPHA, IL1F1}, AIRE (autoimmune regulator) [NCBI Gene 326] {aka AIRE1, APECED, APS1, APSI, PGA1}, FOXP3 (forkhead box P3) [NCBI Gene 50943] {aka AIID, DIETER, IPEX, JM2, PIDX, XPID}
- **Diseases:** viral infections (MESH:D014777), PID (MESH:D007153), thrombotic (MESH:D013927), polyarthritis (MESH:D001168), rheumatic diseases (MESH:D012216), JIA (MESH:D001171), gastrointestinal (MESH:D005767), IEI (MESH:D007154), infection (MESH:D007239), allergy (MESH:D004342), IVC (MESH:C567679), musculoskeletal complaints (MESH:D009140), bacterial infections (MESH:D001424), DADA2 (MESH:C000723487), complement component C1q deficiency (MESH:C567307), IPEX (MESH:C580192), hepatic nodular regenerative hyperplasia (MESH:D020518), autoimmune tissue damage (MESH:D017695), Endothelial (MESH:D005642), complement and phagocytic cell defects (MESH:D002292), restrictive cardiomyopathy (MESH:D002313), eruptive histiocytoma (MESH:D051642), disorders of immune dysregulation (OMIM:614878), , skin (MESH:D012871), like (MESH:C537419), multi-system autoimmune disease (MESH:D020274), C1q deficiency (OMIM:613652), autoimmune and inflammatory (MESH:D007249), monogenic disease (MESH:D004194), vasculitis syndromes (MESH:D014657), rheumatic fever (MESH:D012213), ALPS (MESH:D056735), malignancies (MESH:D009369), CAPS (MESH:D056587), Inferior vena cava (MESH:C563013), non-Langerhans's cell histiocytosis (MESH:D015616), hypercoagulability (MESH:D019851), CMV (MESH:D003586), autoimmune cytopaenias (MESH:D001327), rashes (MESH:D005076), FMF (MESH:D010505), APECED (MESH:D016884), JDM (MESH:D003882), scleroderma (MESH:D012595), spondyloarthropathies (MESH:D025242), agammaglobulinaemia (MESH:C536020), SLE (MESH:D008180), latent virus infection (MESH:D000085343), bone marrow failure (MESH:D000080983), veno-occlusive disease (MESH:D006504), primary immune regulatory disorders (MESH:D000081207), APS) type I (MESH:C538275), fevers (MESH:D005334), genetic abnormality (MESH:D030342), autoimmune and autoinflammatory disorders (MESH:D056660)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

85 references — full list in the complete paper: https://tomesphere.com/paper/PMC12916642/full.md

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Source: https://tomesphere.com/paper/PMC12916642