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2 OMIM references -
1 associated gene
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
9 associated genes
5 signs/symptoms
X-linked agammaglobulinemia
Oligoarticular juvenile arthritis

BTK ANKRD55
CD247
FAS
IL2RA
IL2RB
PTPN2
PTPN22
STAT4
TYK2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BTK
(0.52)
FAS



Citations in the biomedical literature:


X-linked agammaglobulinemia
BTK
Oligoarticular juvenile arthritis
ANKRD55 CD247 FAS IL2RA IL2RB PTPN2
PTPN22 STAT4 TYK2



X-linked agammaglobulinemia
Oligoarticular juvenile arthritis

Synonym(s):
- BTK-deficiency
- Bruton type agammaglobulinemia

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: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: sporadic
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:
2 OMIM references -
1 MeSH reference: C537409
External references:
No OMIM references
No MeSH references


COMMON
SIGNS
- Autoimmunity / autoimmune reaction / autoantibodies
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis


X-linked agammaglobulinemia
Oligoarticular juvenile arthritis

Very frequent
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anomalies of the lymphatic system
- Asthenia / fatigue / weakness
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic / relapsing otitis
- Cutaneous rash
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fever / chilling
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections
- Short stature / dwarfism / nanism
- Tonsil anomaly / hypertrophy / adenoiditis
- X-linked recessive inheritance

Frequent
- Arthritis / synovitis / synovial proliferation
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Meningitis / meningeal syndrome
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sepsis severe / septicemia

Occasional
- Alopecia
- Anaemia
- Early death / lethality
- Hepatitis / icterus / cholestasis
- Irregular / patchy skin hypopigmentation
- Malabsorption / chronic diarrhea / steatorrhea
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Thrombocytopenia / thrombopenia
- Weight loss / loss of appetite / break in weight curve / general health alteration


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