. _:vb50938073 . _:vb50938071 . _:vb50938072 . _:vb50938071 . _:vb50938071 . "De Vaal disease"@en . _:vb50938073 . _:vb50938073 . . _:vb50938073 . _:vb50938072 . "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."^^ . "OMIM mapping confirmed by DO. [SN]."^^ . _:vb50938071 . "DOID:1226"^^ . _:vb50938073 . "aleukocytosis"@en . _:vb50938072 . . "MESH:C538361"^^ . "disease_ontology"^^ . _:vb50938072 . "NCI:C27070"^^ . "GARD:8625"^^ . "UMLS_CUI:C0272167"^^ . "DOID:0060020"^^ . "OMIM:267500"^^ . _:vb50938071 . "SNOMEDCT_US_2021_09_01:111584000"^^ . "reticular dysgenesis"^^ . _:vb50938072 . . .