Search Ontology:
Human Disease

reticular dysgenesis

Term ID
DOID:0060020
Synonyms
  • aleukocytosis
  • 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. (2)
References
Ontology
Human Disease   ( DOID:0060020 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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