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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
11 OMIM references -
11 associated genes
27 signs/symptoms
Severe combined immunodeficiency due to LCK deficiency
Common variable immunodeficiency

LCK CD19
CD81
CR2
ICOS
LRBA
MS4A1
NFKB2
PRKCD
TNFRSF13B
TNFRSF13C
TNFSF12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LCK
LCK
(0.73)
(0.52)
MS4A1
PRKCD



Citations in the biomedical literature:


Severe combined immunodeficiency due to LCK deficiency
LCK
Common variable immunodeficiency
CD19 CD81 CR2 ICOS LRBA MS4A1
NFKB2 PRKCD TNFRSF13B TNFRSF13C TNFSF12



Severe combined immunodeficiency due to LCK deficiency
Common variable immunodeficiency

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):
- CVID
- Idiopathic immunoglobulin deficiency
- Primary antibody deficiency
- Primary hypogammaglobulinemia

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
11 OMIM references -
1 MeSH reference: D017074

Common variable immunodeficiency

Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal dominant inheritance
- Chronic / relapsing otitis
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Leukopenia / hypoleukocytosis
- Lymphopenia
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections
- Thrombocytopenia / thrombopenia

Frequent
- Abnormal hepatic enzymes / transaminases
- Autosomal recessive inheritance
- Bronchial dilation / dilatation / bronchiectasia
- Hemolytic anemia
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Purpura / petichiae
- Splenomegaly
- Structural anomalies of the liver and the biliary tract

Occasional
- Articular / joint pain / arthralgia
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Emphysema
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastrointestinal stromal tumor
- Interstitial / restrictive pneumopathy / restrictive respiratory syndrome
- Lymphoma
- Vascularitis / vasculitides / arteritis


Severe combined immunodeficiency due to LCK deficiency

(no data available)