ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
No signs/symptoms info

PLCG2-associated antibody deficiency and immune dysregulation

Autosomal recessive lymphoproliferative disease

PLCG2	(UniProt - OMIM)		CD27	(UniProt - OMIM)
			ITK	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLCG2	(0.52)	ITK

Citations in the biomedical literature:

PLCG2-associated antibody deficiency and immune dysregulation		Autosomal recessive lymphoproliferative disease
	Synonym(s): - FACU - Familial atypical cold urticaria - Familial cold urticaria with common variable immunodeficiency - PLAID		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Diseases of the skin and subcutaneous tissue -		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: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

No signs/symptoms info available.