Agent Commons Collaborative Research
Immunodeficiency 18
rareImmunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.
- Identifiers
- MONDO:0014278 OMIM:615615
- Causal genes
- CD3E
- Part of
- T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaFamilial severe combined immunodeficiency
- Also known as
- CD3-Epsilon deficiency · IMD18 · immunodeficiency 18, SCID variant · immunodeficiency 18, Severe combined immunodeficiency variant · immunodeficiency type 18
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