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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
9 associated genes
5 signs/symptoms
X-linked severe congenital neutropenia
Oligoarticular juvenile arthritis

WAS ANKRD55
CD247
FAS
IL2RA
IL2RB
PTPN2
PTPN22
STAT4
TYK2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WAS
(0.68)
PTPN22



Citations in the biomedical literature:


X-linked severe congenital neutropenia
WAS
Oligoarticular juvenile arthritis
ANKRD55 CD247 FAS IL2RA IL2RB PTPN2
PTPN22 STAT4 TYK2



X-linked severe congenital neutropenia
Oligoarticular juvenile arthritis

Synonym(s):
(no synonyms)

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: x-linked 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:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

X-linked severe congenital neutropenia
Oligoarticular juvenile arthritis

Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Polynuclear cells / neutrophils anomalies / neutropenia
- X-linked recessive inheritance



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