Term Name: | reticular dysgenesis |
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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 ) |