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Start free with EleplanAutosomal dominant hyper-IgE syndrome due to STAT3 deficiency
ORPHA:2314Disease
Also called AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency · Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency · Buckley syndrome · Job syndrome
What it is
A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
9Common30–79%
32- Abnormality of the dentition
- Abnormality of the face
- Abnormality of the hair
- Bronchiectasis
- Chronic mucocutaneous candidiasis
- Chronic otitis media
- Cleft palate
- Cough
- Cutaneous abscess
- Deeply set eye
- Delayed eruption of teeth
- Dentinogenesis imperfecta
- Dystrophic fingernails
- Facial asymmetry
- Gastroesophageal reflux
- Gingivitis
- Increased total eosinophil count
- Joint hypermobility
- Mandibular prognathia
- Opportunistic infection
- Osteopenia
- Osteoporosis
- Papule
- Paronychia
- Prominent forehead
- Pulmonary pneumatocele
- Recurrent fractures
- Recurrent pneumonia
- Recurrent Staphylococcus aureus infections
- Scoliosis
- Wide nasal bridge
- Xanthelasma
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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