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immunodeficiency 52
Summary
- Synonym
-
- IMD52
- severe combined immunodeficiency due to LAT deficiency
- Definition
- A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.
- Super Class
- T cell deficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111983
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
