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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 4
9 associated genes
8 signs/symptoms
Severe combined immunodeficiency due to LCK deficiency
Juvenile rheumatoid factor-negative polyarthritis

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
Juvenile rheumatoid factor-negative polyarthritis
ANKRD55 CD247 FAS IL2RA IL2RB PTPN2
PTPN22 STAT4 TYK2



Severe combined immunodeficiency due to LCK deficiency
Juvenile rheumatoid factor-negative polyarthritis

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):
- 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:
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: 1-9 / 100 000
Average age onset: -
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

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



Severe combined immunodeficiency due to LCK deficiency

(no data available)