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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 4
9 associated genes
5 signs/symptoms
Severe combined immunodeficiency due to LCK deficiency
Oligoarticular juvenile arthritis

LCK ANKRD55
CD247
FAS
IL2RA
IL2RB
PTPN2
PTPN22
STAT4
TYK2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LCK
LCK
LCK
LCK
(0.88)
(0.86)
(0.85)
(0.76)
CD247
PTPN22
FAS
IL2RB



Citations in the biomedical literature:


Severe combined immunodeficiency due to LCK deficiency
LCK
Oligoarticular juvenile arthritis
ANKRD55 CD247 FAS IL2RA IL2RB PTPN2
PTPN22 STAT4 TYK2



Severe combined immunodeficiency due to LCK deficiency
Oligoarticular juvenile arthritis

Synonym(s):
- SCID due to LCK deficiency
- SCID due to lymphocyte-specific protein tyrosine kinase deficiency
- Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency

Synonym(s):
- Pauciarticular chronic arthritis

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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: multigenic/multifactorial

External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references

Oligoarticular juvenile arthritis

Very frequent
- Articular / joint pain / arthralgia
- Autoimmunity / autoimmune reaction / autoantibodies
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Hydrarthrosis / articular / joint effusion

Frequent
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis



Severe combined immunodeficiency due to LCK deficiency

(no data available)