Evidence map›Paper›PMID 40040707›Full record

ReviewFrontiers in immunology2025

The genetics of hyper IgE syndromes.

Randa AlYafie, Dinesh Velayutham, Nicholas van Panhuys, Puthen Veettil Jithesh

Abstract readReview
In one paragraph

Review 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 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
–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

15 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Review
  5. Article
  6. Article
  7. Case Report:Frontiers in pediatrics · 2026
    Article
  8. IL-1β-induced STAT3 activation drives IL-17-producing CD8Journal of translational medicine · 2025
    Article
  9. Article
  10. Article
  11. Article
  12. Dermatologic presentations of hyper IgE syndrome in pediatric patients.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025
    Review
  13. Article
  14. Understanding and Managing Hyper IgE Syndromes.ImmunoTargets and therapy · 2025
    Review
  15. 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

4 authors.

Randa AlYafie *College of Health and Life Sciences, Hamad bin Khalifa University, Doha, Qatar.
Dinesh Velayutham *College of Health and Life Sciences, Hamad bin Khalifa University, Doha, Qatar.
Nicholas van PanhuysCollege of Health and Life Sciences, Hamad bin Khalifa University, Doha, Qatar.
Puthen Veettil JitheshCollege of Health and Life Sciences, Hamad bin Khalifa University, Doha, Qatar.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hyper IgE syndromes (HIES) form a rare group of primary immunodeficiency disorders (PIDs) distinguished by persistent skin abscesses, dermatitis, allergies, and infections, in addition to their characteristic high serum IgE levels. Autosomal dominant (AD) and autosomal recessive (AR) genetic defects have been reported in HIES. From a clinical perspective, AD-HIES cases generally exhibit several non-immunologic features, including connective tissue, dental and skeletal abnormalities, whilst AR-HIES conditions have a higher incidence of neurologic complications and cutaneous viral infections. Genetic defects associated with HIES lead to impaired immune signaling, affecting pathways crucial for immune cell development, function, and immune response to pathogens/allergens. As a result, HIES patients are predisposed to recurrent bacterial and/or fungal infections, as well as atopic allergic responses. In many cases, the exact biological mechanisms responsible for the variations observed in the clinical phenotypes between the two inherited forms of HIES are still unclear. In this review, we describe the genetic basis of HIES with a distinction between the AR-HIES and AD-HIES forms, to better comprehend the different underlying molecular mechanisms, a distinction which is imperative for the accurate diagnosis, management, and development of targeted therapies for HIES patients.

Indexed as

Job SyndromeAnimalsGenetic Predisposition to DiseaseHumansImmunoglobulin EMutationImmunoglobulin Eatopic dermatitiselevated serum IgEgenetic etiologyHIESimmune signalingMendelian disordersprimary immunodeficiency disordersrecurrent infections

Identifiers

PMID40040707
PMCPMC11876172

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Registered trials

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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.