Human genes for reticular dysgenesis
Reticular dysgenesis [DOID:0060020]
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.
Synonyms: reticular dysgenesis, DOID:0060020, reticular dysgenesises, De Vaal disease, De Vaal disorder ...
Linkouts: OMIM