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Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Juvenile rheumatoid factor-negative polyarthritis
9 associated genes
8 signs/symptoms
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Juvenile rheumatoid factor-negative polyarthritis

TYK2
(UniProt - OMIM)
 ANKRD55
(UniProt - OMIM)
CD247
(UniProt - OMIM)
FAS
(UniProt - OMIM)
IL2RA
(UniProt - OMIM)
IL2RB
(UniProt - OMIM)
PTPN2
(UniProt - OMIM)
PTPN22
(UniProt - OMIM)
STAT4
(UniProt - OMIM)
TYK2
(UniProt - OMIM)

COMMON
GENES 		TYK2


Citations in the biomedical literature:


Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
TYK2
Juvenile rheumatoid factor-negative polyarthritis
ANKRD55 CD247 FAS IL2RA IL2RB PTPN2
PTPN22 STAT4



Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Juvenile rheumatoid factor-negative polyarthritis

Synonym(s):
- AR hyper-IgE syndrome due to TYK2 deficiency
- AR-HIES due to TYK2 deficiency
Synonym(s):
- Polyarthritis without rheumatoid factor
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare respiratory disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: -
Average age of death: normal
Type of inheritance: multigenic/multifactorial
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Juvenile rheumatoid factor-negative polyarthritis

Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Autoimmunity / autoimmune reaction / autoantibodies
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Hydrarthrosis / articular / joint effusion
- Joint / articular deformation
- Restricted joint mobility / joint stiffness / ankylosis



Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency

(no data available)