Term Name: reticular dysgenesis
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.
Ontology: Human Disease [DOID:0060020]   ( DOID:0060020 )

Relationships
is a type of: autosomal recessive disease severe combined immunodeficiency