ReviewOrphanet journal of rare diseases2011
The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency.
Review in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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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
25 citing papers in PubMed, 70 citations in OpenAlex.
- Hyper-IgE syndrome: A rare case report.The journal of allergy and clinical immunology. Global · 2025Article
- Article
- 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 · 2025Review
- Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.Health science reports · 2025Article
- Long non-coding RNAs in response to Ebola virus vaccine-induced immunity.Frontiers in immunology · 2025Article
- Management of a Patient with Cardiovascular Disease Should Include Assessment of Primary and Secondary Immunodeficiencies: Part 1-Primary Immunodeficiencies.Healthcare (Basel, Switzerland) · 2024Review
- Article
- A Young Woman with Autosomal Dominant Hyper Immunoglobulin E (job's) Syndrome Presenting with Acute Abdomen: a Case Report.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2022Article
- Pediatric hyperimmunoglobulin E syndrome (Job's syndrome) with STAT3 mutation: A case report.Annals of medicine and surgery (2012) · 2021Article
- Article
- Factors causing oral and skin pathological features in the hyperimmunoglobulin E syndrome patient including the environmental component: a review of the literature and own experience.Postepy dermatologii i alergologii · 2020Review
- Does Allergy Break Bones? Osteoporosis and Its Connection to Allergy.International journal of molecular sciences · 2020Review
- [Identification of rare diseases in the oral cavity].Der Internist · 2018Review
- Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media.Current allergy and asthma reports · 2018Review
- Article
- Hyper IgE recurrent infection syndrome in South Asia: is there a different outcome?Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2018Article
- Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children.Mediterranean journal of hematology and infectious diseases · 2018Article
- Cancers Related to Immunodeficiencies: Update and Perspectives.Frontiers in immunology · 2016Review
- IL-23/IL-17A Dysfunction Phenotypes Inform Possible Clinical Effects from Anti-IL-17A Therapies.The Journal of investigative dermatology · 2015Review
- Common dermatologic manifestations of primary immune deficiencies.Current allergy and asthma reports · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin. Two distinct entities--the classical hyper-IgE syndrome which is inherited in an autosomal dominant pattern and the autosomal recessive hyper-IgE syndrome--have been recognized. The autosomal dominant hyper-IgE syndrome is associated with a cluster of facial, dental, skeletal, and connective tissue abnormalities which are not observable in the recessive type. In the majority of affected patients with autosomal dominant hyper-IgE syndrome a mutation in the signal transducer and the activator of the transcription 3 gene has been identified, leading to an impaired Th17 cells differentiation and to a downregulation of an antimicrobial response. A mutation in the dedicator of the cytokinesis 8 gene has been identified as the cause of many cases with autosomal recessive hyper-IgE syndrome and, in one patient, a mutation in tyrosine kinase 2 gene has been demonstrated. In this paper, the authors provide a review of the clinical manifestations in the hyper-IgE syndromes with particular emphasis on the diversity of their phenotypic expression and present current diagnostic guidelines for these diseases.
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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 OpenQuestion graph.