mRNA IDs | Primary Information | |
NM_001625.2,NM_013411.3 | Gene Symbol | AK2 |
Protein Name | Adenylate kinase 2 | |
Alternate Names | ADK2 | |
Gene Locus | 1p34 |
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Disease name | Characteristic / Associated features | Category | inheritance type |
Reticular dysgenesis; Adenylate kinase 2 deficiency | Congenital agranulocytosis; Leukopenia; Lymphopenia; Absent bone marrow myeloid elements; Lymphoid hypoplasia; Abnormality of the thymus; Absent cellular immunity; Absent humoral immunity; Decreased T cells; granulocytopenia; deafness; T cell deficiency; B cell deficiency; NK cell deficiency | Combined T-cell and B-cell immunodeficiencies | Autosomal recessive |