Disease

immunodeficiency 18

Definition

A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3.

Synonyms

CD3-epsilon deficiency
IMD18

Cross References

MIM:615615

Parent Terms

autosomal recessive disease
primary immunodeficiency disease

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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