reticular dysgenesis (DOID:0060020)
Alliance: disease page
Synonyms: aleukocytosis; De Vaal disease
Alt IDs: OMIM:267500, DOID:1226, MESH:C538361, NCI:C27070, UMLS_CUI:C0272167
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.