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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
18 signs/symptoms
X-linked severe congenital neutropenia
Pyogenic arthritis - pyoderma gangrenosum - acne

WAS PSTPIP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WAS
(0.97)
PSTPIP1



Citations in the biomedical literature:


X-linked severe congenital neutropenia
WAS
Pyogenic arthritis - pyoderma gangrenosum - acne
PSTPIP1



X-linked severe congenital neutropenia
Pyogenic arthritis - pyoderma gangrenosum - acne

Synonym(s):
(no synonyms)

Synonym(s):
- FRA
- Familial recurrent arthritis
- PAPA syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)

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 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

X-linked severe congenital neutropenia
Pyogenic arthritis - pyoderma gangrenosum - acne

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



Very frequent
- Acne / acnea
- Arthritis / synovitis / synovial proliferation
- Asthenia / fatigue / weakness
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Fever / chilling
- Pustula / pustulosis
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Articular / joint pain / arthralgia
- Lymphadenopathy / polyadenopathies
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia

Occasional
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Bone marrow failure / pancytopenia
- Functional colopathy / irritable bowel syndrome
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Insulin-dependent / type 1 diabetes
- Myositis
- Proteinuria