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reticular dysgenesis
Summary
- Synonym
-
- De Vaal disease
- Definition
- A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
- Super Class
- autosomal recessive disease severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0060020
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
