ODCs

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

PROTEIN INTERACTIONS: 1

6 OMIM references -
5 associated genes
25 signs/symptoms

Severe combined immunodeficiency due to CORO1A deficiency

Chronic granulomatous disease


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CORO1A	(0.52)	NCF4

Citations in the biomedical literature:

Severe combined immunodeficiency due to CORO1A deficiency		Chronic granulomatous disease
	Synonym(s): - SCID due to CORO1A deficiency - SCID due to coronin-1A deficiency - Severe combined immunodeficiency due to coronin-1A deficiency		Synonym(s): - Chronic septic granulomatosis

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare immune disease - Rare respiratory disease - Rare skin 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 / 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: 6 OMIM references - 1 MeSH reference: D006105

Chronic granulomatous disease
	Very frequent - Autosomal recessive inheritance - Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome - Chronic / relapsing otitis - Fever / chilling - Gastric / pyloric stenosis - Hepatomegaly / liver enlargement (excluding storage disease) - Immunodeficiency / increased susceptibility to infections / recurrent infections - Macules - Malabsorption / chronic diarrhea / steatorrhea - Mediastinal / hilar adenopathies - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Polynuclear cells / neutrophils anomalies / neutropenia - Repeat respiratory infections - Skin photosensitivity - Tracheo-esophageal fistula / esophageal atresia / stenosis - Urticaria - X-linked recessive inheritance Occasional - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Eczema - Gingivitis - Liver / hepatic abscess - Meningitis / meningeal syndrome - Sepsis severe / septicemia - Splenomegaly
Severe combined immunodeficiency due to CORO1A deficiency
(no data available)