ORPHA:2314
Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
Synonyms: 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
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency | 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 |
| fr | Syndrome hyper-IgE autosomique dominant par déficit en STAT3 | AD-HIES par déficit en STAT3 · HIES autosomique dominant par déficit en STAT3 · Syndrome d'hyperimmunoglobuline E autosomique dominant par déficit en signal transducer and activator of transcription 3 · Syndrome de Buckley · Syndrome de Job |
| de | Hyper-IgE-Syndrom, autosomal-dominantes, durch STAT3-Mangel | AD-HIES durch STAT3-Defizienz · Buckley-Syndrom · Job-Syndrom · STAT3-HIES · STAT3-Hyper-IgE-Syndrom |
| es | Síndrome de hiper-IgE autosómico dominante por deficiencia de STAT3 | SHIE autosómico dominante por deficiencia de STAT3 · Síndrome de Buckley · Síndrome de Job · Síndrome de hiperinmunoglobulina E autosómico dominante por deficiencia de la proteína transductora de señal y activadora de la transcripción 3 |
| it | Sindrome da iper-IgE autosomica dominante da deficit di STAT3 | AD-HIES da deficit di STAT3 · HIES autosomica dominante da deficit di STAT3 · Sindrome da iperimmunoglobulinemia E autosomica dominante da deficit della proteina trasduttore del segnale e attivatore della trascrizione 3 · Sindrome di Buckley · Sindrome di Job |
| nl | Autosomaal dominant hyper-IgE-syndroom door STAT3-deficiëntie | AD-HIES door STAT3-deficiëntie · Autosomaal dominant HIES door STAT3-deficiëntie · Autosomaal dominant hyperimmunoglobuline E-syndroom door deficiëntie van signaaltransductor en -activator van transcriptie 3-proteïne |
| pt | Síndrome de hiper-IgE autossómica dominante por deficiência de STAT3 | HIES autossómica dominante por deficiência de STAT3 · HIES-AD por deficiência de STAT3 · Síndrome Buckley · Síndrome Job · Síndrome de hiperimunoglobulina E autossómica dominante por deficiência do transdutor de sinal e ativador da proteína de transcrição 3 · Síndrome de hiperimunoglobulinemia E-infeções recorrentes · Síndrome de hiperímunoglobulinemia tipo 1 |
| pl | Autosomalnie dominujący zespół hiper-IgE | AD-HIES · Autosomalnie dominujący HIES · Autosomalnie dominujący zespół hiperimmunoglobuliny E · Niedobór STAT3 · Zespół Buckley'a · Zespół hiperimmunoglobuliny E i nawracających infekcji · Zespół hiperimmunoglobuliny E typu 1 · Zespół Joba |
| cs | Hyper-IgE syndrom, autozomálně-dominantní | AD-HIES · Buckleyové syndrom · Hyperimunoglobulin E syndrom, typ 1 · Hyperimunoglobulin E syndrom s rekurentními infekcemi, typ 1 · Deficit STAT3 · Autozomálně dominantní HIES · Jobův syndrom |
| uk | Аутосомно-домінантний синдром гіпер-IgE, зумовлений дефіцитом STAT3 | AD-HIES внаслідок дефіциту STAT3 · Аутосомно-домінантна ГІЕС внаслідок дефіциту STAT3 · Аутосомно-домінантний синдром гіперімуноглобуліну Е, зумовлений дефіцитом білка трансдуктора сигналу та активатора транскрипції 3 · Синдром Баклі · Синдром Джоба |
| zh | 常染色体显性高IgE综合征 | 高IgE-反复感染综合征 |
| tr | Otozomal dominant hiper-IgE sendromu | AD-HIES · Job sendromu · Buckley sendromu · STAT3 eksikliği · Otozomal dominant HIES · Hiperimmünoglobulin E sendromu tip 1 · Otozomal dominant hiperimmünoglobulin E sendromu · Hiperimmünoglobulin E-tekrarlayan enfeksiyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 147060 | E | validated | |
| ICD-10 | D82.4 | NTBT | attributed | validated |
| ICD-11 | 4A01.34 | NTBT | index | validated |
| MONDO | 0007818 | E | validated | |
| MeSH | D007589 | E | validated | |
| UMLS | C2936739 | E | validated | |
| GARD | 6800 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:331223Hyper-IgE syndrome
rare genetic diseases; rare immunological diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAT3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11364 | ENSG00000168610 | 102582 | 17q21.2 | signal transducer and activator of transcription 3 | 17881745[PMID]_17676033[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | [EXPERT]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
49 annotations · validated 2024-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100750 | Atelectasis | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0000989 | Pruritus | |
| HP:0002719 | Recurrent infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000988 | Skin rash | |
| HP:0200042 | Skin ulcer | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000271 | Abnormality of the face | |
| HP:0001595 | Abnormality of the hair | |
| HP:0002110 | Bronchiectasis | |
| HP:0002728 | Chronic mucocutaneous candidiasis | |
| HP:0000389 | Chronic otitis media | |
| HP:0000175 | Cleft palate | |
| HP:0012735 | Cough | |
| HP:0031292 | Cutaneous abscess | |
| HP:0000490 | Deeply set eye | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000703 | Dentinogenesis imperfecta | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0000324 | Facial asymmetry | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000230 | Gingivitis | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0001382 | Joint hypermobility | |
| HP:0000303 | Mandibular prognathia | |
| HP:0031690 | Opportunistic infection | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0200034 | Papule | |
| HP:0001818 | Paronychia | |
| HP:0011220 | Prominent forehead | |
| HP:0025419 | Pulmonary pneumatocele | |
| HP:0002726 | Recurrent Staphylococcus aureus infections | |
| HP:0002757 | Recurrent fractures | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002650 | Scoliosis | |
| HP:0000431 | Wide nasal bridge | |
| HP:0001114 | Xanthelasma | |
| Occasional (29-5%) | ||
| HP:0100658 | Cellulitis | |
| HP:0007099 | Chiari type I malformation | |
| HP:0001363 | Craniosynostosis | |
| HP:0002617 | Dilatation | |
| HP:0001945 | Fever | |
| HP:0002665 | Lymphoma | |
| HP:0002754 | Osteomyelitis | |
| HP:0200037 | Skin vesicle | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 20301786[PMID]_30247822[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2314
- This record as JSON: /data/d/2314.json