ODCs

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2 OMIM references -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Autosomal recessive hyper-IgE syndrome

Combined immunodeficiency due to DOCK8 deficiency

Citations in the biomedical literature:

Autosomal recessive hyper-IgE syndrome		Combined immunodeficiency due to DOCK8 deficiency
	Synonym(s): - AR-HIES - Autosomal recessive HIES - Hyperimmunoglobulin E syndrome type 2 - Non-skeletal hyper-IgE syndrome		Synonym(s): - CID due to DOCK8 deficiency - Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency - DOCK8 immunodeficiency syndrome

	Classification (Orphanet): (no data available)		Classification (Orphanet): - Rare genetic disease - Rare immune 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

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

Combined immunodeficiency due to DOCK8 deficiency
	Very frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Asthma / bronchospasm - Autosomal recessive inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic / relapsing otitis - Eczema - Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Repeat respiratory infections - Severe allergic reaction / atopy - T-cell deficiency / cellular immunity deficiency - Warts / papillomas Occasional - Neoplasms / tumors - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
Autosomal recessive hyper-IgE syndrome
(no data available)