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hyper-IgE recurrent infection syndrome 1, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Wide nose; and very common findings: Increased circulating IgE concentration, Cutaneous abscess, Recurrent pneumonia, and Recurrent cutaneous abscess formation. 51 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	15	Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, Esophageal food impaction
Blood and immune system	4	Recurrent sinopulmonary infections, Recurrent upper respiratory tract infections, Recurrent Staphylococcus aureus infections
Bones and joints	4	Joint hypermobility, Mild bone density loss (osteopenia), Recurrent fractures
Lungs and breathing	4	Pulmonary cyst, Recurrent upper respiratory tract infections, Pleural empyema
Head and neck	3	Coarse facial features, High palate, Craniosynostosis
Skin	3	Eczematoid dermatitis, Erythema, Skin rash
Lab test results	1	Increased circulating IgE concentration
Heart and blood vessels	1	Chest pain
Brain and nerves	1	Difficulty swallowing (dysphagia)

Age of onset: newborn period.

GeneReviews

Clinical Guidance

STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several connective tissue and skeletal abnormalities.

Presentation

Individuals with STAT3-HIES typically manifest in the newborn period with a rash, often diagnosed as eosinophilic pustulosis. The rash evolves into an eczematoid dermatitis that is often driven by staphylococcal infection .

Immunologic Characteristics

Recurrent skin and sinopulmonary infections are noted in early childhood.

Source: GeneReviews — "STAT3 Hyper IgE Syndrome"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

STAT3 hyper IgE syndrome (STAT3-HIES) should be suspected in individuals with the following findings:

Newborn rash and typically eczematous rash at least through childhood
Recurrent skin boils (often "cold," manifesting little inflammatory reaction)
Cyst-forming pneumonias
Mucocutaneous candidiasis
Nonimmune features such as three or more retained primary teeth, scoliosis, bone fractures following minimal trauma, hyperextensibility of joints, characteristic facial appearance, increased nasal width, high palate
Laboratory test results showing:
Elevations of serum concentration of immunoglobulin E (IgE) to levels above 2000 IU/mL (normal 100 IU/mL in adults);
Eosinophilia (700/L);
Diminished circulating memory T and B cells and near absence of IL-17-producing Th17 cells.

Source: GeneReviews — "STAT3 Hyper IgE Syndrome"

GeneReviews

Differential Diagnosis

Table 2. Disorders with Elevated Serum Concentration of IgE to Consider in the Differential Diagnosis of STAT3 Hyper IgE Syndrome

Gene(s)	Disorder	MOI	Additional Clinical Features of Differential Disorder
Overlapping w/STAT3-HIES	Distinguishing from STAT3-HIES CARD141FLG2	Atopic dermatitis3	ADAR4
CARD11	Immunodeficiency 11B w/atopic dermatitis5 (OMIM 617638)

Genetic testing for STAT3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyper-IgE recurrent infection syndrome 1, autosomal dominant has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for hyper-IgE recurrent infection syndrome 1, autosomal dominant. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with STAT3 hyper IgE syndrome (STAT3-HIES), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with STAT3 Hyper IgE Syndrome

System/Concern	Evaluation	Comment
Skin	Dermatologic exam	Newborn rash eczema during childhood; often improves w/age
Pulmonary	Chest imaging	Detection of bronchiectasis pneumatoceles
Skeletal	Eval for scoliosis osteoporosis	Scoliosis typically progresses through adolescence.; Osteoporosis can be present in children adults; DXA screening recommended.
Dental	Dental exam for possible retention of primary teeth	—
Vascular	Screening for coronary artery cerebral artery aneurysms	Aneurysms much more common in adults than in children; Screening by brain MRA heart CTA or coronary artery MRA every 3 yrs recommended for adolescents adults

Source: GeneReviews — "STAT3 Hyper IgE Syndrome"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "STAT3 Hyper IgE Syndrome"

Clinical Trials

2 trials found

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with STAT3 Hyper IgE Syndrome

System/Concern	Evaluation	Frequency
Skin	Dermatology exam culture of skin lesions	As needed
Pulmonary	High index of suspicion for infection	Lifelong Periodic chest imaging
Skeletal	Scoliosis eval	Through adolescence
Dental	Monitor for emergence of secondary teeth possible need for removal of primary teeth	Every 6-12 mos during childhood Vascular
Other	Monitor for lymphadenopathy, or masses due to incidence of lymphoma	Annually

Source: GeneReviews — "STAT3 Hyper IgE Syndrome"

Phenotype severity distribution: 1 always present feature, 4 very common features, 15 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

202 publications have been identified in PubMed for hyper-IgE recurrent infection syndrome 1, autosomal dominant. Kisho has analyzed 135 by research type. Research spans Epidemiology / Natural History (33%), Review / Meta-Analysis (24%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Disease patterns and progression	45	33%
Research summaries	32	24%
Patient case studies	22	16%
Laboratory research	20	15%
Clinical study results	7	5%
Testing and diagnosis research	6	4%
New treatment approaches	2	1%
Other research	1	1%

Recent Publications

Drabe CH (2026). [PMID: 42257793](https://pubmed.ncbi.nlm.nih.gov/42257793/). *J Clin Immunol*. [Case Report / Case Series]
Sutedja TA (2026). [PMID: 41678759](https://pubmed.ncbi.nlm.nih.gov/41678759/). *N Z Med J*. [Epidemiology / Natural History]
da Paixão MLS (2026). [PMID: 41546490](https://pubmed.ncbi.nlm.nih.gov/41546490/). *J Clin Nurs*. [Epidemiology / Natural History]
Parisi MA (2026). [PMID: 41883813](https://pubmed.ncbi.nlm.nih.gov/41883813/). *Ther Adv Rare Dis*. [Review / Meta-Analysis]
McDermott DH (2026). [PMID: 41904735](https://pubmed.ncbi.nlm.nih.gov/41904735/). *J Clin Immunol*. [Clinical Trial Publication]
Pacileo M (2026). [PMID: 41827435](https://pubmed.ncbi.nlm.nih.gov/41827435/). *J Clin Med*. [Review / Meta-Analysis]
Cimmino F (2026). [PMID: 41836333](https://pubmed.ncbi.nlm.nih.gov/41836333/). *Br J Biomed Sci*. [Basic Science / Preclinical]
Brewer KZ (2026). [PMID: 41764721](https://pubmed.ncbi.nlm.nih.gov/41764721/). *J Immunol*. [Basic Science / Preclinical]
Fenner R (2026). [PMID: 41355466](https://pubmed.ncbi.nlm.nih.gov/41355466/). *Curr Opin Allergy Clin Immunol*. [Review / Meta-Analysis]
Khalid N (2026). [PMID: 32966010](https://pubmed.ncbi.nlm.nih.gov/32966010/). *Unknown Journal*. [Diagnostic / Biomarker]

Kisho

hyper-IgE recurrent infection syndrome 1, autosomal dominant

Overview

Clinical Presentation

Clinical Guidance

Presentation

Immunologic Characteristics

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

hyper-IgE recurrent infection syndrome 1, autosomal dominant

Overview

Clinical Presentation

Clinical Guidance

Presentation

Immunologic Characteristics

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team