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Autosomal dominant hyper-IgE syndrome
1 OMIM reference -
1 associated gene
162 connected diseases
38 signs/symptoms
Disease Type of connection
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Giant cell glioblastoma
Papillary or follicular thyroid carcinoma
Acute promyelocytic leukemia
Cutis gyrata - acanthosis nigricans - craniosynostosis
Lacrimo-auriculo-dento-digital syndrome
Saethre-Chotzen syndrome
Pfeiffer syndrome type 1
Pediatric systemic lupus erythematosus
Behçet disease
Idiopathic hypereosinophilic syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Anaplastic ependymoma
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Glucocorticoid resistance
Bilateral renal agenesis
Bilateral renal dysplasia
Familial medullary thyroid carcinoma
Haddad syndrome
Hirschsprung disease
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Unilateral renal dysplasia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
B-cell chronic lymphocytic leukemia
Distal 22q11.2 microdeletion syndrome
Mantle cell lymphoma
Multiple myeloma
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Thyroid hypoplasia
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Multiple endocrine neoplasia type 1
Noonan syndrome
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Williams syndrome
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Laron syndrome
Obesity due to congenital leptin deficiency
Severe combined immunodeficiency due to CORO1A deficiency
Short stature due to partial GHR deficiency
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Hyperinsulinism due to HNF1A deficiency
MODY syndrome
Estrogen resistance syndrome
Atypical chronic myeloid leukemia
Chronic neutrophilic leukemia
Familial retinoblastoma
Hereditary neutrophilia
Monosomy 13q14
Solitary fibrous tumor
Thrombocytopenia - absent radius
Unilateral retinoblastoma
Coffin-Siris syndrome
Familial rhabdoid tumor
Miller-Dieker syndrome
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Muenke syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Cerebellar ataxia-deafness-narcolepsy syndrome
17q11 microdeletion syndrome
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Antley-Bixler syndrome
Apert syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Blackfan-Diamond anemia
Bohring-Opitz syndrome
Chorioretinopathy, Birdshot type
Cleidocranial dysplasia
Congenital diaphragmatic hernia
Constitutional mismatch repair deficiency syndrome
Crouzon disease
FGFR2-related bent bone dysplasia
Familial isolated dilated cardiomyopathy
Familial scaphocephaly syndrome, McGillivray type
Hartsfield-Bixler-Demyer syndrome
Hereditary nonpolyposis colon cancer
Inflammatory myofibroblastic tumor
Isolated trigonocephaly
Jackson-Weiss syndrome
Kallmann syndrome
LAMB-2-related infantile-onset nephrotic syndrome
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Muir-Torre syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Non-polyposis Turcot syndrome
Normosmic congenital hypogonadotropic hypogonadism
Osteoglophonic dwarfism
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Pierson syndrome
Pilocytic astrocytoma
Septo-optic dysplasia
Synaptic congenital myasthenic syndromes
Tetralogy of Fallot
Weaver syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Severe combined immunodeficiency due to LCK deficiency
Laron syndrome with immunodeficiency
Acute basophilic leukemia
Acute myeloid leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Deafness - lymphedema - leukemia
Growth delay due to insulin-like growth factor I resistance
Monocytopenia with susceptibility to infections
Myelodysplastic syndromes
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Congenital pulmonary alveolar proteinosis
Gastrointestinal stromal tumor
Immunodeficiency due to CD25 deficiency
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRA rearrangement
Myeloid neoplasm associated with PDGFRB rearrangement
Obesity due to leptin receptor gene deficiency
Omenn syndrome
Precursor B-cell acute lymphoblastic leukemia
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Unclassified chronic myeloproliferative disease
WHIM syndrome
- Autosomal dominant HIES
- Autosomal dominant hyperimmunoglobulin E syndrome
- Buckley syndrome
- Hyperimmunoglobulin E syndrome type 1
- Hyperimmunoglobulin E-recurrent infection syndrome
- Job syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
STAT3 P40763102582
Very frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Atelectasia / pulmonary collapse
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Eczema
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Pruritus / itching
- Repeat respiratory infections

- Anomalies of teeth and dentition
- Broad nose / nasal bridge
- Chronic / relapsing otitis
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cough
- Deepset eyes / enophthalmos
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dysplastic / thick / grooved fingernails
- Eosinophils anomalies / hypereosinophilia
- Face / facial anomalies
- Follicular / erythematous / edematous papules / milium
- Frontal bossing / prominent forehead
- Gingivitis
- Hair and scalp anomalies
- Hyperextensible joints / articular hyperlaxity
- Mutiple fractures / bone fragility
- Onyxis / paronyxis / ungual inflammation
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Scoliosis

- Arterial aneurism (excluding aorta)
- Autosomal recessive inheritance
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Craniostenosis / craniosynostosis / sutural synostosis
- Fever / chilling
- Lymphoma
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment